HbVar.1 protEffect HBA2 or HBA1 2(NA1) Val>Gly HbVar.1 commonName Hb Antananarivo HbVar.1 ethnic Madagascar HbVar.1 phenoCommon Hemoglobin variant HbVar.2 protEffect HBA2 or HBA1 3(NA2) Leu>Arg HbVar.2 commonName Hb Chongqing HbVar.2 ethnic Chinese HbVar.2 phenoCommon Hemoglobin variant HbVar.3 protEffect HBA2 or HBA1 6(A3) Ala>Asp HbVar.3 commonName Hb J-Toronto HbVar.3 ethnic English HbVar.3 phenoCommon Hemoglobin variant HbVar.4 protEffect HBA2 or HBA1 6(A3) Ala>Pro HbVar.4 commonName Hb Karachi HbVar.4 ethnic Pakistani HbVar.4 phenoCommon Hemoglobin variant HbVar.5 protEffect HBA2 or HBA1 7(A4) Asp>Ala HbVar.5 commonName Hb Sawara HbVar.5 ethnic Japanese HbVar.5 phenoCommon Hemoglobin variant HbVar.6 protEffect HBA2 or HBA1 7(A4) Asp>Asn HbVar.6 commonName Hb Dunn HbVar.6 ethnic Black HbVar.6 ethnic Indian HbVar.6 ethnic Moroccan HbVar.6 phenoCommon Hemoglobin variant HbVar.7 protEffect HBA2 or HBA1 7(A4) Asp>Val HbVar.7 commonName Hb Ferndown HbVar.7 ethnic English HbVar.7 phenoCommon Hemoglobin variant HbVar.8 protEffect HBA2 or HBA1 7(A4) Asp>Tyr HbVar.8 commonName Hb Woodville HbVar.8 ethnic Vietnamese HbVar.8 phenoCommon Hemoglobin variant HbVar.9 protEffect HBA2 or HBA1 7(A4) Asp>Gly HbVar.9 commonName Hb Swan River HbVar.9 ethnic Yugoslavian HbVar.9 ethnic Caucasian HbVar.9 ethnic Japanese HbVar.9 phenoCommon Hemoglobin variant HbVar.10 protEffect HBA2 or HBA1 8(A5) Lys>Asn HbVar.10 commonName Hb Tatras HbVar.10 ethnic Czech HbVar.10 phenoCommon Hemoglobin variant HbVar.11 protEffect HBA2 or HBA1 8(A5) Lys>Glu HbVar.11 commonName Hb Kurosaki HbVar.11 ethnic Japanese HbVar.11 phenoCommon Hemoglobin variant HbVar.12 protEffect HBA2 or HBA1 12(A9) Lys>Glu HbVar.12 commonName Hb Anantharaj HbVar.12 phenoCommon Hemoglobin variant HbVar.13 protEffect HBA2 or HBA1 12(A9) Lys>Gln HbVar.13 commonName Hb J-Wenchang-Wuming HbVar.13 ethnic Chinese HbVar.13 phenoCommon Hemoglobin variant HbVar.14 protEffect HBA2 or HBA1 12(A9) Lys>Asn HbVar.14 commonName Hb Albany-Suma HbVar.14 ethnic Black HbVar.14 phenoCommon Hemoglobin variant HbVar.15 protEffect HBA2 or HBA1 13(A10) Ala>Asp HbVar.15 commonName Hb J-Paris-I HbVar.15 alias Hb J-Aljezur HbVar.15 ethnic Spanish HbVar.15 ethnic Portuguese HbVar.15 ethnic Iranian HbVar.15 ethnic Yugoslavian HbVar.15 ethnic Punjabi HbVar.15 phenoCommon Hemoglobin variant HbVar.16 protEffect HBA2 or HBA1 15(A12) Trp>Arg HbVar.16 commonName Hb Evanston HbVar.16 alias Codon 14 (T->A); TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)] alpha-Thal-1 HbVar.16 ethnic Black HbVar.16 phenoCommon Thalassemia HbVar.17 protEffect HBA1 16(A13) Gly>Asp HbVar.17 commonName Hb I-Interlaken HbVar.17 alias Hb J-Oxford HbVar.17 alias Hb N-Cosenza HbVar.17 ethnic English HbVar.17 ethnic Italian HbVar.17 phenoCommon Hemoglobin variant HbVar.18 protEffect HBA2 or HBA1 16(A13) Gly>Arg HbVar.18 commonName Hb Ottawa HbVar.18 alias Hb Siam HbVar.18 ethnic Canadian HbVar.18 ethnic Chinese HbVar.18 ethnic Polish HbVar.18 phenoCommon Hemoglobin variant HbVar.19 protEffect HBA2 17(A14) Lys>Glu HbVar.19 commonName Hb I HbVar.19 alias Hb I-Philadelphia HbVar.19 alias Hb I-Texas HbVar.19 alias Hb I-Burlington HbVar.19 alias Hb I-Skamania HbVar.19 ethnic Australian HbVar.19 ethnic Black HbVar.19 ethnic Caucasian HbVar.19 ethnic Indian HbVar.19 ethnic Japanese HbVar.19 phenoCommon Hemoglobin variant HbVar.20 protEffect HBA2 or HBA1 17(A14) Lys>Asn HbVar.20 commonName Hb Beijing HbVar.20 ethnic Chinese HbVar.20 phenoCommon Hemoglobin variant HbVar.21 protEffect HBA2 or HBA1 17(A14) Lys>Met HbVar.21 commonName Hb Harbin HbVar.21 ethnic Chinese HbVar.21 phenoCommon Hemoglobin variant HbVar.22 protEffect HBA2 or HBA1 19(A16) Gly>Arg HbVar.22 commonName Hb Handsworth HbVar.22 ethnic Indian HbVar.22 ethnic Chinese HbVar.22 ethnic Saudi Arabian HbVar.22 phenoCommon Hemoglobin variant HbVar.23 protEffect HBA2 or HBA1 19(A16) Gly>Asp HbVar.23 commonName Hb Al-Ain Abu Dhabi HbVar.23 ethnic United Arab Emirates HbVar.23 phenoCommon Hemoglobin variant HbVar.24 protEffect HBA2 or HBA1 20(AB1) Ala>Asp HbVar.24 commonName Hb J-Kurosh HbVar.24 ethnic Iranian HbVar.24 phenoCommon Hemoglobin variant HbVar.25 protEffect HBA2 or HBA1 20(AB1) Ala>Glu HbVar.25 commonName Hb J-Tashikuergan HbVar.25 ethnic Tajike HbVar.25 ethnic Afghan HbVar.25 phenoCommon Hemoglobin variant HbVar.26 protEffect HBA2 or HBA1 21(B1) His>Tyr HbVar.26 commonName Hb Necker Enfants-Malades HbVar.26 ethnic French West Indies HbVar.26 phenoCommon Hemoglobin variant HbVar.27 protEffect HBA2 21(B1) His>Gln HbVar.27 commonName Hb Le Lamentin HbVar.27 ethnic English HbVar.27 ethnic French West Indies HbVar.27 ethnic Japanese HbVar.27 ethnic Spanish HbVar.27 phenoCommon Hemoglobin variant HbVar.28 protEffect HBA2 or HBA1 21(B1) His>Arg HbVar.28 commonName Hb Hobart HbVar.28 ethnic English HbVar.28 phenoCommon Hemoglobin variant HbVar.29 protEffect HBA2 or HBA1 22(B2) Ala>Asp HbVar.29 commonName Hb J-Nyanza HbVar.29 ethnic Western Kenyan HbVar.29 phenoCommon Hemoglobin variant HbVar.30 protEffect HBA2 or HBA1 22(B2) Ala>Pro HbVar.30 commonName Hb Fontainebleau HbVar.30 ethnic Italian HbVar.30 phenoCommon Hemoglobin variant HbVar.31 protEffect HBA2 or HBA1 23(B3) Gly>Asp HbVar.31 commonName Hb J-Medellin HbVar.31 ethnic Colombian HbVar.31 phenoCommon Hemoglobin variant HbVar.32 protEffect HBA2 or HBA1 24(B4) Glu>Gln HbVar.32 commonName Hb Memphis HbVar.32 ethnic Black HbVar.32 phenoCommon Hemoglobin variant HbVar.33 protEffect HBA2 or HBA1 24(B4) Glu>Lys HbVar.33 commonName Hb Chad HbVar.33 alias Hb E-Keelung HbVar.33 ethnic Black HbVar.33 ethnic Chinese HbVar.33 ethnic Japanese HbVar.33 phenoCommon Hemoglobin variant HbVar.34 protEffect HBA2 or HBA1 24(B4) Glu>Val HbVar.34 commonName Hb G-Audhali HbVar.34 ethnic Black HbVar.34 phenoCommon Hemoglobin variant HbVar.35 protEffect HBA2 or HBA1 24(B4) Glu>Gly HbVar.35 commonName Hb Reims HbVar.35 ethnic French HbVar.35 phenoCommon Hemoglobin variant HbVar.36 protEffect HBA2 or HBA1 24(B4) Glu>Asp HbVar.36 commonName Hb Lisbon HbVar.36 ethnic Portuguese HbVar.36 phenoCommon Hemoglobin variant HbVar.37 protEffect HBA2 or HBA1 25(B5) Tyr>His HbVar.37 commonName Hb Luxembourg HbVar.37 ethnic Dutch HbVar.37 phenoCommon Hemoglobin variant HbVar.38 protEffect HBA1 25(B5) Tyr>Cys HbVar.38 commonName Hb Ramona HbVar.38 ethnic Spanish HbVar.38 phenoCommon Hemoglobin variant HbVar.39 protEffect HBA2 or HBA1 27(B7) Ala>Glu HbVar.39 commonName Hb Shenyang HbVar.39 ethnic Chinese HbVar.39 phenoCommon Hemoglobin variant HbVar.40 protEffect HBA2 27(B7) Ala>Thr HbVar.40 commonName Hb Caserta HbVar.40 ethnic Italian HbVar.40 phenoCommon Hemoglobin variant HbVar.41 protEffect HBA2 or HBA1 28(B8) Glu>Gly HbVar.41 commonName Hb Fort Worth HbVar.41 ethnic Black HbVar.41 phenoCommon Hemoglobin variant HbVar.42 protEffect HBA2 or HBA1 28(B8) Glu>Val HbVar.42 commonName Hb Spanish Town HbVar.42 ethnic Jamaican HbVar.42 phenoCommon Hemoglobin variant HbVar.43 protEffect HBA2 or HBA1 28(B8) Glu>Lys HbVar.43 commonName Hb Shuangfeng HbVar.43 ethnic Chinese HbVar.43 phenoCommon Hemoglobin variant HbVar.44 protEffect HBA2 28(B8) Glu>Asp HbVar.44 commonName Hb Hekinan HbVar.44 ethnic Black HbVar.44 ethnic Chinese HbVar.44 ethnic Japanese HbVar.44 ethnic Thai HbVar.44 phenoCommon Hemoglobin variant HbVar.45 protEffect HBA2 30(B10) Leu>Pro HbVar.45 commonName Hb Agrinio HbVar.45 alias Codon 29 CTG->CCG of the alpha2 gene alpha-Thal-2 HbVar.45 ethnic Greek Cypriot HbVar.45 phenoCommon alpha-2 thalassemia HbVar.45 phenoCommon mild Anemia HbVar.45 phenoCommon marked Microcytosis HbVar.45 phenoCommon marked Hypochromia HbVar.45 phenoCommon few Heinz bodies HbVar.45 phenoCommon induced by oxidant dyes Heinz bodies HbVar.46 protEffect HBA2 or HBA1 31(B11) Glu>Lys HbVar.46 commonName Hb O-Padova HbVar.46 ethnic Italian HbVar.46 ethnic Turkish HbVar.46 phenoCommon Hemoglobin variant HbVar.47 protEffect HBA2 or HBA1 31(B11) Glu>Gln HbVar.47 commonName Hb G-Honolulu HbVar.47 alias Hb G-Singapore HbVar.47 alias Hb G-Chinese HbVar.47 alias Hb G-Hong Kong HbVar.47 ethnic Chinese HbVar.47 phenoCommon Hemoglobin variant HbVar.48 protEffect HBA2 or HBA1 32(B12) Arg>Ser HbVar.48 commonName Hb Prato HbVar.48 ethnic Italian HbVar.48 ethnic Taiwanese HbVar.48 phenoCommon Hemoglobin variant HbVar.49 protEffect HBA2 or HBA1 35(B15) Leu>Arg HbVar.49 commonName Hb Queens HbVar.49 alias Hb Ogi HbVar.49 ethnic Chinese HbVar.49 ethnic Japanese HbVar.49 ethnic Korean HbVar.49 ethnic Thai HbVar.49 ethnic Vietnamese HbVar.49 phenoCommon Hemoglobin variant HbVar.50 protEffect HBA2 36(B16) Ser>Tyr HbVar.50 commonName Hb Shinagawa HbVar.50 ethnic Japanese HbVar.50 phenoCommon Hemoglobin variant HbVar.51 protEffect HBA2 or HBA1 38(C2) Pro>Arg HbVar.51 commonName Hb Boumerdes HbVar.51 ethnic African-American HbVar.51 ethnic Algerian HbVar.51 phenoCommon Hemoglobin variant HbVar.52 protEffect HBA2 or HBA1 41(C5) Lys>Glu HbVar.52 commonName Hb Kariya HbVar.52 ethnic Japanese HbVar.52 ethnic Caucasian HbVar.52 phenoCommon Hemoglobin variant HbVar.53 protEffect HBA2 41(C5) Lys>Met HbVar.53 commonName Hb Kanagawa HbVar.53 ethnic Japanese HbVar.53 phenoCommon Hemoglobin variant HbVar.54 protEffect HBA2 or HBA1 42(C6) Thr>Ser HbVar.54 commonName Hb Miyano HbVar.54 ethnic Japanese HbVar.54 phenoCommon Hemoglobin variant HbVar.55 protEffect HBA2 or HBA1 44(CE1) Phe>Val HbVar.55 commonName Hb Torino HbVar.55 ethnic Italian HbVar.55 ethnic Lebanese HbVar.55 phenoCommon Hemoglobin variant HbVar.56 protEffect HBA2 44(CE1) Phe>Leu HbVar.56 commonName Hb Hirosaki HbVar.56 ethnic Japanese HbVar.56 phenoCommon Hemoglobin variant HbVar.57 protEffect HBA2 or HBA1 45(CE2) Pro>Leu HbVar.57 commonName Hb Milledgeville HbVar.57 ethnic Black HbVar.57 phenoCommon Hemoglobin variant HbVar.58 protEffect HBA2 or HBA1 45(CE2) Pro>Arg HbVar.58 commonName Hb Kawachi HbVar.58 ethnic Japanese HbVar.58 phenoCommon Hemoglobin variant HbVar.59 protEffect HBA2 or HBA1 46(CE3) His>Arg HbVar.59 commonName Hb Fort de France HbVar.59 ethnic French West Indies HbVar.59 phenoCommon Hemoglobin variant HbVar.60 protEffect HBA2 or HBA1 46(CE3) His>Gln HbVar.60 commonName Hb Bari HbVar.60 ethnic Italian HbVar.60 phenoCommon Hemoglobin variant HbVar.61 protEffect HBA2 or HBA1 46(CE3) His>Asp HbVar.61 commonName Hb Poitiers HbVar.61 ethnic French HbVar.61 phenoCommon Hemoglobin variant HbVar.62 protEffect HBA2 46(CE3) His>Pro HbVar.62 commonName Hb Oita HbVar.62 ethnic Japanese HbVar.62 phenoCommon Hemoglobin variant HbVar.63 protEffect HBA2 or HBA1 46(CE3) His>Tyr HbVar.63 commonName Hb Matsudo HbVar.63 ethnic Asian HbVar.63 phenoCommon Hemoglobin variant HbVar.64 protEffect HBA2 or HBA1 48(CE5) Asp>Gly HbVar.64 commonName Hb Beilinson HbVar.64 alias Hb Umi HbVar.64 alias Hb Yukuhashi-II HbVar.64 alias Hb L-Gaslini HbVar.64 alias Hb Tagawa-II HbVar.64 alias Hb Kokura HbVar.64 alias Hb Mugino HbVar.64 ethnic Ashkenazi Jews HbVar.64 ethnic Japanese HbVar.64 ethnic United Arab Emirates HbVar.64 phenoCommon Hemoglobin variant HbVar.65 protEffect HBA2 48(CE5) Asp>His HbVar.65 commonName Hb Hasharon HbVar.65 alias Hb Sinai HbVar.65 alias Hb Sealy HbVar.65 alias Hb L-Ferrara HbVar.65 alias Hb Michigan-I HbVar.65 alias Hb Michigan-II HbVar.65 ethnic Ashkenazi Jews HbVar.65 ethnic Italian HbVar.65 phenoCommon Hemoglobin variant HbVar.66 protEffect HBA2 or HBA1 48(CE5) Asp>Asn HbVar.66 commonName Hb Arya HbVar.66 ethnic Iranian HbVar.66 phenoCommon Hemoglobin variant HbVar.67 protEffect HBA2 or HBA1 48(CE5) Asp>Ala HbVar.67 commonName Hb Cordele HbVar.67 ethnic Black HbVar.67 phenoCommon Hemoglobin variant HbVar.68 protEffect HBA2 48(CE5) Asp>Tyr HbVar.68 commonName Hb Kurdistan HbVar.68 ethnic Kurdish HbVar.68 phenoCommon Hemoglobin variant HbVar.69 protEffect HBA2 49(CE6) Leu>Arg HbVar.69 commonName Hb Montgomery HbVar.69 ethnic Black HbVar.69 ethnic Chinese HbVar.69 phenoCommon Hemoglobin variant HbVar.70 protEffect HBA2 50(CE7) Ser>Arg HbVar.70 commonName Hb Savaria HbVar.70 ethnic Hungarian HbVar.70 ethnic Yugoslavian HbVar.70 ethnic Kenyan HbVar.70 ethnic American HbVar.70 phenoCommon Hemoglobin variant HbVar.71 protEffect HBA2 51(CE8) His>Asp HbVar.71 commonName Hb J-Sardegna HbVar.71 ethnic Italian HbVar.71 ethnic Sardinian HbVar.71 phenoCommon Hemoglobin variant HbVar.72 protEffect HBA2 or HBA1 51(CE8) His>Arg HbVar.72 commonName Hb Aichi HbVar.72 ethnic Japanese HbVar.72 phenoCommon Hemoglobin variant HbVar.73 protEffect HBA2 or HBA1 51(CE8) His>Gln OR HBA1 or HBA2 51(CE8) His>Gln HbVar.73 commonName Hb Frankfurt HbVar.73 ethnic German HbVar.73 ethnic Italian HbVar.73 phenoCommon Hemoglobin variant HbVar.74 protEffect HBA2 or HBA1 52(CE9) Gly>Asp HbVar.74 commonName Hb J-Abidjan HbVar.74 ethnic Yacouba HbVar.74 ethnic Japanese HbVar.74 phenoCommon Hemoglobin variant HbVar.75 protEffect HBA2 or HBA1 52(CE9) Gly>Arg HbVar.75 commonName Hb Russ HbVar.75 ethnic Caucasian HbVar.75 ethnic Chinese HbVar.75 ethnic American HbVar.75 phenoCommon Hemoglobin variant HbVar.76 protEffect HBA2 or HBA1 54(E2) Ala>Asp HbVar.76 commonName Hb J-Rovigo HbVar.76 ethnic Italian HbVar.76 ethnic Brazilian HbVar.76 phenoCommon Hemoglobin variant HbVar.77 protEffect HBA2 or HBA1 55(E3) Gln>Arg HbVar.77 commonName Hb Shimonoseki HbVar.77 alias Hb Hikoshima HbVar.77 ethnic Japanese HbVar.77 phenoCommon Hemoglobin variant HbVar.78 protEffect HBA2 or HBA1 55(E3) Gln>Glu HbVar.78 commonName Hb Mexico HbVar.78 alias Hb J-Paris-II HbVar.78 alias Hb Uppsala HbVar.78 ethnic Mexican HbVar.78 ethnic Swedish HbVar.78 ethnic Algerian HbVar.78 ethnic Indian HbVar.78 ethnic Black HbVar.78 phenoCommon Hemoglobin variant HbVar.79 protEffect HBA2 or HBA1 57(E5) Lys>Thr HbVar.79 commonName Hb Thailand HbVar.79 ethnic Thai HbVar.79 phenoCommon Hemoglobin variant HbVar.80 protEffect HBA2 or HBA1 57(E5) Lys>Glu HbVar.80 commonName Hb Shaare Zedek HbVar.80 ethnic Jewish HbVar.80 phenoCommon Hemoglobin variant HbVar.81 protEffect HBA2 or HBA1 57(E5) Lys>Asn HbVar.81 commonName Hb Belliard HbVar.81 ethnic Spanish HbVar.81 phenoCommon Hemoglobin variant HbVar.82 protEffect HBA2 or HBA1 57(E5) Lys>Arg HbVar.82 commonName Hb Port Huron HbVar.82 ethnic African-American HbVar.82 phenoCommon Hemoglobin variant HbVar.83 protEffect HBA2 or HBA1 58(E6) Gly>Arg HbVar.83 commonName Hb L-Persian Gulf HbVar.83 ethnic Persian Gulf HbVar.83 phenoCommon Hemoglobin variant HbVar.84 protEffect HBA2 or HBA1 58(E6) Gly>Asp HbVar.84 commonName Hb J-Norfolk HbVar.84 alias Hb Kagoshima HbVar.84 alias Hb Nishik-I HbVar.84 alias Hb Nishik-II HbVar.84 alias Hb Nishik-III HbVar.84 ethnic English HbVar.84 ethnic Italian HbVar.84 ethnic Japanese HbVar.84 ethnic Nepali HbVar.84 phenoCommon Hemoglobin variant HbVar.85 protEffect HBA2 or HBA1 59(E7) His>Tyr HbVar.85 commonName Hb M-Boston HbVar.85 alias Hb M-Osaka HbVar.85 alias Hb M-Gothenburg HbVar.85 alias Hb M-Kiskunhalas HbVar.85 alias Hb M-Norin HbVar.85 ethnic German HbVar.85 ethnic Swedish HbVar.85 ethnic Dutch HbVar.85 ethnic Hungarian HbVar.85 ethnic Japanese HbVar.85 phenoCommon Hemoglobin variant HbVar.86 protEffect HBA2 or HBA1 60(E8) Gly>Val HbVar.86 commonName Hb Tottori HbVar.86 ethnic Japanese HbVar.86 phenoCommon Hemoglobin variant HbVar.87 protEffect HBA2 or HBA1 60(E8) Gly>Asp HbVar.87 commonName Hb Adana HbVar.87 alias Codon 59 (G->A) of the alpha1 gene; GGC->GAC alpha-Thal-2 HbVar.87 ethnic Turkish HbVar.87 phenoCommon alpha-2 thalassemia HbVar.88 protEffect HBA2 or HBA1 61(E9) Lys>Asn HbVar.88 commonName Hb Zambia HbVar.88 ethnic Zambian HbVar.88 phenoCommon Hemoglobin variant HbVar.89 protEffect HBA2 or HBA1 61(E9) Lys>Glu HbVar.89 commonName Hb Dagestan HbVar.89 ethnic Dagestan HbVar.89 phenoCommon Hemoglobin variant HbVar.90 protEffect HBA2 or HBA1 62(E10) Lys>Asn HbVar.90 commonName Hb J-Buda HbVar.90 ethnic Hungarian HbVar.90 phenoCommon Hemoglobin variant HbVar.91 protEffect HBA2 62(E10) Lys>Thr HbVar.91 commonName Hb J-Anatolia HbVar.91 ethnic Turkish HbVar.91 phenoCommon Hemoglobin variant HbVar.92 protEffect HBA2 or HBA1 62(E10) Lys>Glu HbVar.92 commonName Hb Miyagi HbVar.92 ethnic Japanese HbVar.92 phenoCommon Hemoglobin variant HbVar.93 protEffect HBA2 63(E11) Val>Met HbVar.93 commonName Hb Evans HbVar.93 ethnic Caucasian HbVar.93 phenoCommon Hemoglobin variant HbVar.94 protEffect HBA2 or HBA1 64(E12) Ala>Asp HbVar.94 commonName Hb Pontoise HbVar.94 alias Hb J-Pontoise HbVar.94 ethnic Spanish HbVar.94 phenoCommon Hemoglobin variant HbVar.95 protEffect HBA2 65(E13) Asp>Asn HbVar.95 commonName Hb G-Waimanalo HbVar.95 alias Hb Aida HbVar.95 ethnic Indian HbVar.95 ethnic Philippine HbVar.95 ethnic Rumanian HbVar.95 ethnic Spanish HbVar.95 phenoCommon Hemoglobin variant HbVar.96 protEffect HBA2 or HBA1 65(E13) Asp>Tyr HbVar.96 commonName Hb Persepolis HbVar.96 ethnic Indian Sikh HbVar.96 phenoCommon Hemoglobin variant HbVar.97 protEffect HBA1 65(E13) Asp>His HbVar.97 commonName Hb Q-India HbVar.97 ethnic Hindu HbVar.97 ethnic French HbVar.97 ethnic Iranian HbVar.97 phenoCommon Hemoglobin variant HbVar.98 protEffect HBA2 or HBA1 65(E13) Asp>Gly HbVar.98 commonName Hb Guangzhou-Hangzhou HbVar.98 ethnic Chinese HbVar.98 phenoCommon Hemoglobin variant HbVar.99 protEffect HBA2 or HBA1 66(E14) Ala>Val HbVar.99 commonName Hb Bois Guillaume HbVar.99 ethnic French HbVar.99 phenoCommon Hemoglobin variant HbVar.100 protEffect HBA2 or HBA1 69(E17) Asn>Lys HbVar.100 commonName Hb G-Philadelphia HbVar.100 alias Hb G-Knoxville HbVar.100 alias Hb Stanleyville-I HbVar.100 alias Hb D-Washington HbVar.100 alias Hb D-St. Louis HbVar.100 alias Hb G-Bristol HbVar.100 alias Hb G-Azakouli HbVar.100 alias Hb D-Baltimore HbVar.100 ethnic Black HbVar.100 ethnic Italian HbVar.100 ethnic Chinese HbVar.100 phenoCommon Hemoglobin variant HbVar.101 protEffect HBA2 or HBA1 69(E17) Asn>Asp HbVar.101 commonName Hb Ube-2 HbVar.101 ethnic Japanese HbVar.101 ethnic Taiwanese HbVar.101 phenoCommon Hemoglobin variant HbVar.102 protEffect HBA2 or HBA1 72(E20) Ala>Glu HbVar.102 commonName Hb J-Habana HbVar.102 ethnic Cuban HbVar.102 ethnic Japanese HbVar.102 phenoCommon Hemoglobin variant HbVar.103 protEffect HBA2 or HBA1 72(E20) Ala>Val HbVar.103 commonName Hb Ozieri HbVar.103 ethnic Sardinian HbVar.103 phenoCommon Hemoglobin variant HbVar.104 protEffect HBA2 or HBA1 73(EF1) His>Arg HbVar.104 commonName Hb Daneshgah-Tehran HbVar.104 ethnic Iranian HbVar.104 ethnic Argentine HbVar.104 phenoCommon Hemoglobin variant HbVar.105 protEffect HBA2 73(EF1) His>Gln HbVar.105 commonName Hb Gouda HbVar.105 ethnic Dutch HbVar.105 phenoCommon Hemoglobin variant HbVar.106 protEffect HBA2 or HBA1 73(EF1) His>Tyr HbVar.106 commonName Hb Fuchu-I HbVar.106 alias Hb Tanashi HbVar.106 ethnic Japanese HbVar.106 phenoCommon Hemoglobin variant HbVar.107 protEffect HBA1 75(EF3) Asp>His HbVar.107 commonName Hb Q-Thailand HbVar.107 alias Hb G-Taichung HbVar.107 alias Hb Mahidol HbVar.107 alias Hb Kurashiki-I HbVar.107 alias Hb Asabara HbVar.107 ethnic Chinese HbVar.107 ethnic Thai HbVar.107 ethnic Japanese HbVar.107 phenoCommon Hemoglobin variant HbVar.108 protEffect HBA2 or HBA1 75(EF3) Asp>Ala HbVar.108 commonName Hb Lille HbVar.108 ethnic Algerian HbVar.108 phenoCommon Hemoglobin variant HbVar.109 protEffect HBA2 or HBA1 75(EF3) Asp>Asn HbVar.109 commonName Hb G-Pest HbVar.109 ethnic Hungarian HbVar.109 phenoCommon Hemoglobin variant HbVar.110 protEffect HBA1 75(EF3) Asp>Gly HbVar.110 commonName Hb Chapel Hill HbVar.110 ethnic Caucasian HbVar.110 ethnic Chinese HbVar.110 phenoCommon Hemoglobin variant HbVar.111 protEffect HBA2 or HBA1 76(EF4) Asp>His HbVar.111 commonName Hb Q-Iran HbVar.111 ethnic Iranian HbVar.111 ethnic Turkish HbVar.111 ethnic Pakistani HbVar.111 phenoCommon Hemoglobin variant HbVar.112 protEffect HBA1 76(EF4) Asp>Ala HbVar.112 commonName Hb Duan HbVar.112 ethnic Chinese HbVar.112 phenoCommon Hemoglobin variant HbVar.113 protEffect HBA2 or HBA1 76(EF4) Asp>Tyr HbVar.113 commonName Hb Winnipeg HbVar.113 ethnic Caucasian HbVar.113 ethnic Sardinian HbVar.113 phenoCommon Hemoglobin variant HbVar.114 protEffect HBA2 or HBA1 76(EF4) Asp>Asn HbVar.114 commonName Hb Matsue-Oki HbVar.114 ethnic Japanese HbVar.114 ethnic Black HbVar.114 phenoCommon Hemoglobin variant HbVar.115 protEffect HBA2 or HBA1 76(EF4) Asp>Gly HbVar.115 commonName Hb Mizushi HbVar.115 ethnic Japanese HbVar.115 phenoCommon Hemoglobin variant HbVar.116 protEffect HBA2 or HBA1 77(EF5) Met>Lys HbVar.116 commonName Hb Noko HbVar.116 phenoCommon Hemoglobin variant HbVar.117 protEffect HBA2 or HBA1 77(EF5) Met>Thr HbVar.117 commonName Hb Aztec HbVar.117 ethnic Mexican HbVar.117 ethnic Spanish HbVar.117 phenoCommon Hemoglobin variant HbVar.118 protEffect HBA2 or HBA1 78(EF6) Pro>Arg HbVar.118 commonName Hb GuiZhou HbVar.118 ethnic Chinese HbVar.118 ethnic Japanese HbVar.118 phenoCommon Hemoglobin variant HbVar.119 protEffect HBA2 79(EF7) Asn>Lys HbVar.119 commonName Hb Stanleyville-II HbVar.119 ethnic Black HbVar.119 phenoCommon Hemoglobin variant HbVar.120 protEffect HBA2 or HBA1 79(EF7) Asn>Asp HbVar.120 commonName Hb J-Singa HbVar.120 ethnic Acadian HbVar.120 ethnic French HbVar.120 phenoCommon Hemoglobin variant HbVar.121 protEffect HBA1 79(EF7) Asn>His HbVar.121 commonName Hb Davenport HbVar.121 ethnic German HbVar.121 phenoCommon Hemoglobin variant HbVar.122 protEffect HBA2 or HBA1 80(EF8) Ala>Thr HbVar.122 commonName Hb Mantes-La-Jolie HbVar.122 ethnic Chadian HbVar.122 phenoCommon Hemoglobin variant HbVar.123 protEffect HBA2 or HBA1 81(F1) Leu>Arg HbVar.123 commonName Hb Ann Arbor HbVar.123 ethnic Caucasian HbVar.123 phenoCommon Hemoglobin variant HbVar.124 protEffect HBA2 81(F1) Leu>Val HbVar.124 commonName Hb Conakry HbVar.124 ethnic Guinean HbVar.124 phenoCommon Hemoglobin variant HbVar.125 protEffect HBA2 or HBA1 82(F2) Ser>Cys HbVar.125 commonName Hb Nigeria HbVar.125 ethnic Nigerian HbVar.125 phenoCommon Hemoglobin variant HbVar.126 protEffect HBA2 or HBA1 83(F3) Ala>Asp HbVar.126 commonName Hb Garden State HbVar.126 phenoCommon Hemoglobin variant HbVar.127 protEffect HBA2 84(F4) Leu>Pro HbVar.127 commonName Hb Les Andelys HbVar.127 ethnic French HbVar.127 phenoCommon Hemoglobin variant HbVar.128 protEffect HBA2 or HBA1 85(F5) Ser>Arg HbVar.128 commonName Hb Etobicoke HbVar.128 ethnic Irish HbVar.128 ethnic French HbVar.128 ethnic American Indian HbVar.128 ethnic English HbVar.128 phenoCommon Hemoglobin variant HbVar.129 protEffect HBA2 or HBA1 86(F6) Asp>Asn HbVar.129 commonName Hb G-Norfolk HbVar.129 ethnic English HbVar.129 phenoCommon Hemoglobin variant HbVar.130 protEffect HBA2 or HBA1 86(F6) Asp>Tyr HbVar.130 commonName Hb Atago HbVar.130 ethnic Japanese HbVar.130 phenoCommon Hemoglobin variant HbVar.131 protEffect HBA2 86(F6) Asp>Val HbVar.131 commonName Hb Inkster HbVar.131 ethnic English HbVar.131 ethnic German HbVar.131 ethnic Black HbVar.131 phenoCommon Hemoglobin variant HbVar.132 protEffect HBA2 or HBA1 87(F7) Leu>Arg HbVar.132 commonName Hb Moabit HbVar.132 ethnic Turkish HbVar.132 phenoCommon Hemoglobin variant HbVar.133 protEffect HBA2 or HBA1 88(F8) His>Arg HbVar.133 commonName Hb Iwata HbVar.133 ethnic Japanese HbVar.133 ethnic Chinese HbVar.133 phenoCommon Hemoglobin variant HbVar.134 protEffect HBA2 or HBA1 88(F8) His>Tyr HbVar.134 commonName Hb M-Iwate HbVar.134 alias Hb M-Kankakee HbVar.134 alias Hb M-Oldenburg HbVar.134 alias Hb M-Sendai HbVar.134 ethnic Japanese HbVar.134 ethnic Irish HbVar.134 ethnic German HbVar.134 ethnic Turkish HbVar.134 ethnic Rumanian HbVar.134 ethnic Scottish HbVar.134 ethnic Caucasian HbVar.134 ethnic Black HbVar.134 phenoCommon Hemoglobin variant HbVar.135 protEffect HBA2 or HBA1 88(F8) His>Asn HbVar.135 commonName Hb Auckland HbVar.135 ethnic New Zealand HbVar.135 phenoCommon Hemoglobin variant HbVar.136 protEffect HBA2 or HBA1 89(F9) Ala>Ser HbVar.136 commonName Hb Loire HbVar.136 ethnic French HbVar.136 ethnic Algerian HbVar.136 phenoCommon Hemoglobin variant HbVar.137 protEffect HBA2 or HBA1 89(F9) Ala>Val HbVar.137 commonName Hb Columbia Missouri HbVar.137 ethnic Caucasian HbVar.137 phenoCommon Hemoglobin variant HbVar.138 protEffect HBA2 or HBA1 89(F9) Ala>Gly HbVar.138 commonName Hb Valparaiso HbVar.138 ethnic Chilean HbVar.138 phenoCommon Hemoglobin variant HbVar.139 protEffect HBA2 or HBA1 90(FG1) His>Leu HbVar.139 commonName Hb Luton HbVar.139 ethnic Pakistani HbVar.139 phenoCommon Hemoglobin variant HbVar.140 protEffect HBA2 or HBA1 90(FG1) His>Tyr HbVar.140 commonName Hb Villeurbanne HbVar.140 phenoCommon Hemoglobin variant HbVar.141 protEffect HBA2 or HBA1 90(FG1) His>Pro HbVar.141 commonName Hb Tokyo HbVar.141 ethnic Japanese HbVar.141 phenoCommon Hemoglobin variant HbVar.142 protEffect HBA2 91(FG2) Lys>Asn OR HBA1 91(FG2) Lys>Asn HbVar.142 commonName Hb J-Broussais HbVar.142 alias Hb Tagawa-I HbVar.142 ethnic French HbVar.142 ethnic Australian HbVar.142 ethnic French Canadian HbVar.142 ethnic Japanese HbVar.142 phenoCommon Hemoglobin variant HbVar.143 protEffect HBA1 91(FG2) Lys>Thr HbVar.143 commonName Hb J-Rajappen HbVar.143 ethnic Indian HbVar.143 phenoCommon Hemoglobin variant HbVar.144 protEffect HBA2 or HBA1 91(FG2) Lys>Met HbVar.144 commonName Hb Handa HbVar.144 alias Hb Munakata HbVar.144 ethnic Japanese HbVar.144 phenoCommon Hemoglobin variant HbVar.145 protEffect HBA2 or HBA1 92(FG3) Leu>Pro HbVar.145 commonName Hb Port Phillip HbVar.145 ethnic Chinese HbVar.145 phenoCommon Hemoglobin variant HbVar.146 protEffect HBA2 or HBA1 93(FG4) Arg>Gln HbVar.146 commonName Hb J-Cape Town HbVar.146 ethnic Japanese HbVar.146 ethnic South African HbVar.146 phenoCommon Hemoglobin variant HbVar.147 protEffect HBA2 or HBA1 93(FG4) Arg>Trp HbVar.147 commonName Hb Cemenelum HbVar.147 ethnic French Caucasian HbVar.147 phenoCommon Hemoglobin variant HbVar.148 protEffect HBA2 or HBA1 93(FG4) Arg>Leu HbVar.148 commonName Hb Chesapeake HbVar.148 ethnic German HbVar.148 ethnic Irish HbVar.148 ethnic Japanese HbVar.148 phenoCommon Hemoglobin variant HbVar.149 protEffect HBA2 93(FG4) Arg>Pro HbVar.149 commonName Hb Monou HbVar.149 ethnic Japanese HbVar.149 phenoCommon Hemoglobin variant HbVar.150 protEffect HBA2 94(FG5) Val>Gly HbVar.150 commonName Hb Bronte HbVar.150 ethnic Italian HbVar.150 phenoCommon Hemoglobin variant HbVar.151 protEffect HBA2 or HBA1 95(G1) Asp>Asn HbVar.151 commonName Hb Titusville HbVar.151 ethnic Black HbVar.151 ethnic Scandinavian HbVar.151 phenoCommon Hemoglobin variant HbVar.152 protEffect HBA2 95(G1) Asp>Tyr HbVar.152 commonName Hb Setif HbVar.152 ethnic Algerian HbVar.152 ethnic Iranian HbVar.152 ethnic Lebanese HbVar.152 ethnic Saudi Arabian HbVar.152 phenoCommon Hemoglobin variant HbVar.153 protEffect HBA2 95(G1) Asp>His HbVar.153 commonName Hb Sunshine Seth HbVar.153 ethnic Caucasian HbVar.153 phenoCommon Hemoglobin variant HbVar.154 protEffect HBA1 95(G1) Asp>Gly HbVar.154 commonName Hb Capa HbVar.154 ethnic Turkish HbVar.154 phenoCommon Hemoglobin variant HbVar.155 protEffect HBA2 or HBA1 95(G1) Asp>Glu HbVar.155 commonName Hb Roanne HbVar.155 ethnic French HbVar.155 phenoCommon Hemoglobin variant HbVar.156 protEffect HBA2 or HBA1 95(G1) Asp>Ala HbVar.156 commonName Hb Bassett HbVar.156 ethnic Caucasian HbVar.156 phenoCommon Hemoglobin variant HbVar.157 protEffect HBA2 96(G2) Pro>Leu HbVar.157 commonName Hb G-Georgia HbVar.157 ethnic Black HbVar.157 ethnic Portuguese HbVar.157 phenoCommon Hemoglobin variant HbVar.158 protEffect HBA2 or HBA1 96(G2) Pro>Ser HbVar.158 commonName Hb Rampa HbVar.158 ethnic Indian HbVar.158 ethnic North European HbVar.158 phenoCommon Hemoglobin variant HbVar.159 protEffect HBA2 or HBA1 96(G2) Pro>Ala HbVar.159 commonName Hb Denmark Hill HbVar.159 ethnic West Indian HbVar.159 ethnic Spanish HbVar.159 phenoCommon Hemoglobin variant HbVar.160 protEffect HBA1 96(G2) Pro>Arg HbVar.160 commonName Hb St. Luke's HbVar.160 ethnic Maltese HbVar.160 ethnic Japanese HbVar.160 phenoCommon Hemoglobin variant HbVar.161 protEffect HBA2 or HBA1 96(G2) Pro>Thr HbVar.161 commonName Hb Godavari HbVar.161 ethnic Indian HbVar.161 ethnic Malay HbVar.161 ethnic African HbVar.161 phenoCommon Hemoglobin variant HbVar.162 protEffect HBA2 98(G4) Asn>Lys HbVar.162 commonName Hb Dallas HbVar.162 ethnic Caucasian HbVar.162 phenoCommon Hemoglobin variant HbVar.163 protEffect HBA2 98(G4) Asn>His HbVar.163 commonName Hb Fuchu-II HbVar.163 alias Hb Shinbashi HbVar.163 ethnic Japanese HbVar.163 phenoCommon Hemoglobin variant HbVar.164 protEffect HBA2 or HBA1 100(G6) Lys>Glu HbVar.164 commonName Hb Turriff HbVar.164 ethnic Scottish HbVar.164 phenoCommon Hemoglobin variant HbVar.165 protEffect HBA2 103(G9) Ser>Arg HbVar.165 commonName Hb Manitoba I HbVar.165 ethnic English HbVar.165 ethnic German HbVar.165 ethnic Irish HbVar.165 ethnic Italian HbVar.165 phenoCommon Hemoglobin variant HbVar.166 protEffect HBA2 or HBA1 104(G10) His>Arg HbVar.166 commonName Hb Contaldo HbVar.166 ethnic Italian HbVar.166 phenoCommon Hemoglobin variant HbVar.167 protEffect HBA2 105(G11) Cys>Tyr HbVar.167 commonName Hb Sallanches HbVar.167 alias Codon 104 (G->A) of the alpha2 gene; TGC->TAC alpha-Thal-2 HbVar.167 ethnic French Caucasian HbVar.167 ethnic Indian HbVar.167 ethnic Pakistani HbVar.167 phenoCommon Thalassemia HbVar.167 phenoCommon Splenomegaly HbVar.167 phenoCommon hemolytic Anemia HbVar.167 phenoCommon hemolytic crisis induced by oxidative stress Anemia HbVar.168 protEffect HBA2 110(G16) Leu>Arg HbVar.168 commonName Hb Suan-Dok HbVar.168 alias Codon 109 (T->G) of the alpha2 gene; CTG->CGG alpha-Thal-2 HbVar.168 ethnic Thai HbVar.168 phenoCommon Thalassemia HbVar.169 protEffect HBA2 or HBA1 111(G17) Ala>Asp HbVar.169 commonName Hb Petah Tikva HbVar.169 alias Codon 110 (C->A); alpha2 or alpha1 gene; GCC->GAC alpha-Thal-2 HbVar.169 ethnic Iraqi Jews HbVar.169 phenoCommon alpha-2 thalassemia HbVar.170 protEffect HBA2 or HBA1 111(G17) Ala>Thr HbVar.170 commonName Hb Tonosho HbVar.170 ethnic Japanese HbVar.170 phenoCommon Hemoglobin variant HbVar.171 protEffect HBA2 112(G18) Ala>Val HbVar.171 commonName Hb Anamosa HbVar.171 ethnic Caucasian HbVar.171 phenoCommon Hemoglobin variant HbVar.172 protEffect HBA2 or HBA1 112(G18) Ala>Thr HbVar.172 commonName Hb Mosella HbVar.172 ethnic Luxembourg HbVar.172 phenoCommon Hemoglobin variant HbVar.173 protEffect HBA2 or HBA1 113(G19) His>Asp HbVar.173 commonName Hb Hopkins-II HbVar.173 ethnic Caucasian HbVar.173 phenoCommon Hemoglobin variant HbVar.174 protEffect HBA2 or HBA1 113(G19) His>Arg HbVar.174 commonName Hb Strumica HbVar.174 alias Hb Serbia HbVar.174 ethnic Serbian HbVar.174 ethnic Turkish HbVar.174 ethnic Macedonian HbVar.174 phenoCommon Hemoglobin variant HbVar.175 protEffect HBA2 or HBA1 114(GH1) Leu>His HbVar.175 commonName Hb Twin Peaks HbVar.175 ethnic Irish HbVar.175 ethnic Mexican HbVar.175 phenoCommon Hemoglobin variant HbVar.176 protEffect HBA2 or HBA1 115(GH2) Pro>Arg HbVar.176 commonName Hb Chiapas HbVar.176 ethnic Mexican HbVar.176 phenoCommon Hemoglobin variant HbVar.177 protEffect HBA2 or HBA1 115(GH2) Pro>Leu HbVar.177 commonName Hb Nouakchott HbVar.177 ethnic Northwest African HbVar.177 phenoCommon Hemoglobin variant HbVar.178 protEffect HBA2 or HBA1 115(GH2) Pro>Ser HbVar.178 commonName Hb Melusine HbVar.178 ethnic Algerian HbVar.178 phenoCommon Hemoglobin variant HbVar.179 protEffect HBA2 or HBA1 116(GH3) Ala>Asp HbVar.179 commonName Hb J-Tongariki HbVar.179 ethnic Kilengi HbVar.179 ethnic Melanesian HbVar.179 phenoCommon Hemoglobin variant HbVar.180 protEffect HBA1 117(GH4) Glu>Lys HbVar.180 commonName Hb O-Indonesia HbVar.180 alias Hb Oliviere HbVar.180 alias Hb Buginese-X HbVar.180 ethnic Buginese HbVar.180 ethnic Chinese HbVar.180 ethnic Iranian HbVar.180 ethnic Italian HbVar.180 ethnic Makassars HbVar.180 ethnic South African HbVar.180 phenoCommon Hemoglobin variant HbVar.181 protEffect HBA2 or HBA1 117(GH4) Glu>Ala HbVar.181 commonName Hb Ube-4 HbVar.181 ethnic Japanese HbVar.181 ethnic Korean HbVar.181 phenoCommon Hemoglobin variant HbVar.182 protEffect HBA2 or HBA1 117(GH4) Glu>Gln HbVar.182 commonName Hb Oleander HbVar.182 ethnic Black HbVar.182 phenoCommon Hemoglobin variant HbVar.183 protEffect HBA2 or HBA1 121(H3) Ala>Glu HbVar.183 commonName Hb J-Meerut HbVar.183 alias Hb J-Birmingham HbVar.183 ethnic Indian HbVar.183 ethnic Japanese HbVar.183 ethnic Turkish HbVar.183 phenoCommon Hemoglobin variant HbVar.184 protEffect HBA2 or HBA1 122(H4) Val>Met HbVar.184 commonName Hb Owari HbVar.184 ethnic Japanese HbVar.184 phenoCommon Hemoglobin variant HbVar.185 protEffect HBA2 123(H5) His>Gln HbVar.185 commonName Hb Westmead HbVar.185 ethnic Laotian HbVar.185 ethnic Chinese HbVar.185 phenoCommon Hemoglobin variant HbVar.186 protEffect HBA1 124(H6) Ala>Ser HbVar.186 commonName Hb Mulhacen HbVar.186 ethnic Spanish HbVar.186 phenoCommon Hemoglobin variant HbVar.187 protEffect HBA2 126(H8) Leu>Pro HbVar.187 commonName Hb Quong Sze HbVar.187 alias Codon 125 (T->C) of the alpha2 gene; CTG->CCG alpha-Thal-2 HbVar.187 ethnic Chinese HbVar.187 phenoCommon alpha-2 thalassemia HbVar.188 protEffect HBA2 or HBA1 127(H9) Asp>Asn HbVar.188 commonName Hb Tarrant HbVar.188 ethnic Mexican HbVar.188 phenoCommon Hemoglobin variant HbVar.188 phenoCommon mild Erythrocytosis HbVar.189 protEffect HBA1 127(H9) Asp>His HbVar.189 commonName Hb Sassari HbVar.189 ethnic Northern Sardinia HbVar.189 phenoCommon Hemoglobin variant HbVar.190 protEffect HBA2 or HBA1 127(H9) Asp>Val HbVar.190 commonName Hb Fukutomi HbVar.190 ethnic Japanese HbVar.190 phenoCommon Hemoglobin variant HbVar.191 protEffect HBA2 or HBA1 127(H9) Asp>Tyr HbVar.191 commonName Hb Montefiore HbVar.191 ethnic Puerto Rican HbVar.191 phenoCommon Hemoglobin variant HbVar.192 protEffect HBA2 or HBA1 127(H9) Asp>Gly HbVar.192 commonName Hb West One HbVar.192 ethnic Egyptian HbVar.192 phenoCommon Hemoglobin variant HbVar.193 protEffect HBA2 or HBA1 128(H10) Lys>Thr HbVar.193 commonName Hb St. Claude HbVar.193 ethnic French Canadian HbVar.193 phenoCommon Hemoglobin variant HbVar.194 protEffect HBA2 or HBA1 128(H10) Lys>Asn HbVar.194 commonName Hb Jackson HbVar.194 ethnic Black HbVar.194 phenoCommon Hemoglobin variant HbVar.195 protEffect HBA1 130(H12) Leu>Pro HbVar.195 commonName Hb Tunis-Bizerte HbVar.195 alias Hb Utrecht HbVar.195 ethnic Tunisian HbVar.195 phenoCommon Hemoglobin variant HbVar.195 phenoCommon marked Anemia HbVar.195 phenoCommon Microcytosis HbVar.196 protEffect HBA2 130(H12) Leu>Pro HbVar.196 commonName Hb Utrecht HbVar.196 alias Codon 129 (T->C) of the alpha2 gene; CTG->CCG alpha-Thal-2 HbVar.196 ethnic Polish HbVar.196 ethnic Indonesian HbVar.196 ethnic Armenian HbVar.196 phenoCommon alpha-2 thalassemia HbVar.197 protEffect HBA2 131(H13) Ala>Pro HbVar.197 commonName Hb Sun Prairie HbVar.197 alias Codon 130 (G->C) of the alpha2 gene; GCT->CCT alpha-Thal-2 HbVar.197 ethnic Indian HbVar.197 phenoCommon alpha-2 thalassemia HbVar.197 phenoCommon moderate Splenomegaly HbVar.197 phenoCommon Heinz bodies HbVar.198 protEffect HBA2 131(H13) Ala>Asp HbVar.198 commonName Hb Yuda HbVar.198 ethnic Japanese HbVar.198 phenoCommon Hemoglobin variant HbVar.199 protEffect HBA2 or HBA1 132(H14) Ser>Pro HbVar.199 commonName Hb Questembert HbVar.199 alias Codon 131 (T->C) at codon 131 of the alpha2 gene; TCT->CCT alpha-Thal-2 HbVar.199 ethnic French HbVar.199 phenoCommon alpha-2 thalassemia HbVar.200 protEffect HBA2 or HBA1 133(H15) Val>Gly HbVar.200 commonName Hb Caen HbVar.200 ethnic French Caucasian HbVar.200 phenoCommon Hemoglobin variant HbVar.201 protEffect HBA2 or HBA1 134(H16) Ser>Arg HbVar.201 commonName Hb Val de Marne HbVar.201 alias Hb Footscray HbVar.201 ethnic Chinese HbVar.201 ethnic French HbVar.201 ethnic Hungarian HbVar.201 ethnic Polish HbVar.201 phenoCommon Hemoglobin variant HbVar.202 protEffect HBA2 or HBA1 134(H16) Ser>Asn HbVar.202 commonName Hb Saclay HbVar.202 ethnic Algerian HbVar.202 ethnic Alsatian HbVar.202 phenoCommon Hemoglobin variant HbVar.203 protEffect HBA2 or HBA1 136(H18) Val>Glu HbVar.203 commonName Hb Pavie HbVar.203 ethnic Italian HbVar.203 phenoCommon Hemoglobin variant HbVar.204 protEffect HBA2 137(H19) Leu>Pro HbVar.204 commonName Hb Bibba HbVar.204 ethnic Caucasian HbVar.204 phenoCommon Hemoglobin variant HbVar.205 protEffect HBA2 or HBA1 137(H19) Leu>Arg HbVar.205 commonName Hb Toyama HbVar.205 ethnic Japanese HbVar.205 phenoCommon Hemoglobin variant HbVar.206 protEffect HBA2 137(H19) Leu>Met HbVar.206 commonName Hb Chicago HbVar.206 ethnic Black HbVar.206 phenoCommon Hemoglobin variant HbVar.207 protEffect HBA2 or HBA1 139(H21) Ser>Pro HbVar.207 commonName Hb Attleboro HbVar.207 phenoCommon Hemoglobin variant HbVar.208 protEffect HBA2 or HBA1 140(HC1) Lys>Thr HbVar.208 commonName Hb Tokoname HbVar.208 ethnic Japanese HbVar.208 phenoCommon Hemoglobin variant HbVar.209 protEffect HBA1 140(HC1) Lys>Glu HbVar.209 commonName Hb Hanamaki-1 HbVar.209 ethnic Japanese HbVar.209 phenoCommon Hemoglobin variant HbVar.210 protEffect HBA2 or HBA1 141(HC2) Tyr>His HbVar.210 commonName Hb Ethiopia HbVar.210 alias Hb Rouen HbVar.210 ethnic Ethiopian HbVar.210 ethnic French HbVar.210 phenoCommon Hemoglobin variant HbVar.211 protEffect HBA2 or HBA1 142(HC3) Arg>Pro HbVar.211 commonName Hb Singapore HbVar.211 ethnic Singapore HbVar.211 phenoCommon Hemoglobin variant HbVar.212 protEffect HBA2 or HBA1 142(HC3) Arg>His HbVar.212 commonName Hb Suresnes HbVar.212 ethnic French HbVar.212 ethnic Black HbVar.212 phenoCommon Hemoglobin variant HbVar.213 protEffect HBA2 or HBA1 142(HC3) Arg>Ser HbVar.213 commonName Hb J-Cubujuqui HbVar.213 ethnic American Indian HbVar.213 ethnic Mexican HbVar.213 phenoCommon Hemoglobin variant HbVar.214 protEffect HBA2 or HBA1 142(HC3) Arg>Leu HbVar.214 commonName Hb Legnano HbVar.214 ethnic Italian HbVar.214 ethnic Japanese HbVar.214 phenoCommon Hemoglobin variant HbVar.215 protEffect HBA2 or HBA1 142(HC3) Arg>Gly HbVar.215 commonName Hb J-Camaguey HbVar.215 ethnic Spanish HbVar.215 ethnic Chinese HbVar.215 ethnic Australian HbVar.215 phenoCommon Hemoglobin variant HbVar.216 protEffect HBA2 or HBA1 142(HC3) Arg>Cys HbVar.216 commonName Hb Nunobiki HbVar.216 ethnic Japanese HbVar.216 phenoCommon Hemoglobin variant HbVar.217 protEffect HBB 2(NA1) Val>Ala HbVar.217 commonName Hb Raleigh HbVar.217 ethnic Swedish HbVar.217 ethnic Caucasian HbVar.217 phenoCommon Hemoglobin variant HbVar.218 protEffect HBB 2(NA1) Val>Leu HbVar.218 commonName Hb Niigata HbVar.218 ethnic Japanese HbVar.218 phenoCommon Hemoglobin variant HbVar.219 protEffect HBB 3(NA2) His>Arg HbVar.219 commonName Hb Deer Lodge HbVar.219 ethnic Welsh HbVar.219 ethnic Dutch HbVar.219 ethnic English HbVar.219 ethnic Black HbVar.219 phenoCommon Hemoglobin variant HbVar.220 protEffect HBB 3(NA2) His>Gln HbVar.220 commonName Hb Okayama HbVar.220 ethnic Japanese HbVar.220 phenoCommon Hemoglobin variant HbVar.221 protEffect HBB 3(NA2) His>Tyr HbVar.221 commonName Hb Fukuoka HbVar.221 ethnic Japanese HbVar.221 phenoCommon Hemoglobin variant HbVar.222 protEffect HBB 3(NA2) His>Leu HbVar.222 commonName Hb Graz HbVar.222 ethnic Austrian HbVar.222 phenoCommon Hemoglobin variant HbVar.223 protEffect HBB 3(NA2) His>Pro HbVar.223 commonName Hb Agrigente HbVar.223 ethnic Sicilian HbVar.223 phenoCommon Hemoglobin variant HbVar.224 protEffect HBB 6(A2) Pro>Arg HbVar.224 commonName Hb Warwickshire HbVar.224 ethnic Scottish HbVar.224 phenoCommon Hemoglobin variant HbVar.225 protEffect HBB 6(A2) Pro>Ser HbVar.225 commonName Hb Tyne HbVar.225 ethnic English HbVar.225 phenoCommon Hemoglobin variant HbVar.226 protEffect HBB 7(A3) Glu>Val HbVar.226 commonName Hb S HbVar.226 ethnic Black HbVar.226 ethnic American Indian HbVar.226 phenoCommon Hemoglobin variant HbVar.226 phenoCommon hemolytic Anemia HbVar.226 phenoCommon Jaundice HbVar.227 protEffect HBB 7(A3) Glu>Lys HbVar.227 commonName Hb C HbVar.227 ethnic Black HbVar.227 phenoCommon Hemoglobin variant HbVar.227 phenoCommon Target cells HbVar.227 phenoCommon hemolytic Anemia HbVar.227 phenoCommon mild Anemia HbVar.227 phenoCommon Intraerythrocytic crystals HbVar.228 protEffect HBB 7(A3) Glu>Ala HbVar.228 commonName Hb G-Makassar HbVar.228 ethnic Indonesian HbVar.228 ethnic Thai HbVar.228 phenoCommon Hemoglobin variant HbVar.228 phenoCommon Normal HbVar.229 protEffect HBB 7(A3) Glu>Gln HbVar.229 commonName Hb Machida HbVar.229 ethnic Japanese HbVar.229 phenoCommon Hemoglobin variant HbVar.230 protEffect HBB 8(A4) Glu>Gly HbVar.230 commonName Hb G-San Jose HbVar.230 ethnic Italian HbVar.230 ethnic Mexican HbVar.230 phenoCommon Hemoglobin variant HbVar.230 phenoCommon Normal HbVar.231 protEffect HBB 8(A4) Glu>Lys HbVar.231 commonName Hb G-Siriraj HbVar.231 ethnic Thai HbVar.231 ethnic Chinese HbVar.231 phenoCommon Hemoglobin variant HbVar.232 protEffect HBB 9(A5) Lys>Thr HbVar.232 commonName Hb Rio Grande HbVar.232 ethnic Mexican HbVar.232 phenoCommon Hemoglobin variant HbVar.233 protEffect HBB 9(A5) Lys>Gln HbVar.233 commonName Hb J-Luhe HbVar.233 ethnic Chinese HbVar.233 phenoCommon Hemoglobin variant HbVar.234 protEffect HBB 9(A5) Lys>Glu HbVar.234 commonName Hb N-Timone HbVar.234 ethnic Italian HbVar.234 ethnic French HbVar.234 phenoCommon Hemoglobin variant HbVar.235 protEffect HBB 9(A5) Lys>Met HbVar.235 commonName Hb Nakano HbVar.235 ethnic Japanese HbVar.235 phenoCommon Hemoglobin variant HbVar.236 protEffect HBB 10(A6) Ser>Cys HbVar.236 commonName Hb Porto Alegre HbVar.236 ethnic Argentine HbVar.236 ethnic Brazilian HbVar.236 ethnic Canary Islands HbVar.236 phenoCommon Hemoglobin variant HbVar.236 phenoCommon Normal HbVar.237 protEffect HBB 11(A7) Ala>Asp HbVar.237 commonName Hb Ankara HbVar.237 ethnic Turkish HbVar.237 ethnic Japanese HbVar.237 phenoCommon Hemoglobin variant HbVar.238 protEffect HBB 11(A7) Ala>Val HbVar.238 commonName Hb Iraq-Halabja HbVar.238 ethnic Iraqi HbVar.238 phenoCommon Hemoglobin variant HbVar.239 protEffect HBB 12(A8) Val>Ile HbVar.239 commonName Hb Hamilton HbVar.239 ethnic Austrian HbVar.239 ethnic Chinese HbVar.239 ethnic Sardinian HbVar.239 phenoCommon Hemoglobin variant HbVar.240 protEffect HBB 12(A8) Val>Asp HbVar.240 commonName Hb Windsor HbVar.240 ethnic Anglo-Saxon HbVar.240 phenoCommon Hemoglobin variant HbVar.241 protEffect HBB 12(A8) Val>Phe HbVar.241 commonName Hb Washtenaw HbVar.241 ethnic Hungarian HbVar.241 ethnic American HbVar.241 phenoCommon Hemoglobin variant HbVar.242 protEffect HBB 14(A10) Ala>Asp HbVar.242 commonName Hb J-Lens HbVar.242 ethnic French HbVar.242 phenoCommon Hemoglobin variant HbVar.243 protEffect HBB 15(A11) Leu>Arg HbVar.243 commonName Hb Sogn HbVar.243 ethnic Norwegian HbVar.243 ethnic American HbVar.243 phenoCommon Hemoglobin variant HbVar.244 protEffect HBB 15(A11) Leu>Pro HbVar.244 commonName Hb Saki HbVar.244 ethnic African HbVar.244 ethnic Caucasian HbVar.244 phenoCommon Hemoglobin variant HbVar.245 protEffect HBB 16(A12) Trp>Arg HbVar.245 commonName Hb Belfast HbVar.245 ethnic French HbVar.245 ethnic Irish HbVar.245 ethnic Italian HbVar.245 phenoCommon Hemoglobin variant HbVar.246 protEffect HBB 16(A12) Trp>Gly HbVar.246 commonName Hb Randwick HbVar.246 ethnic North Italian HbVar.246 phenoCommon Hemoglobin variant HbVar.247 protEffect HBB 17(A13) Gly>Asp HbVar.247 commonName Hb J-Baltimore HbVar.247 alias Hb J-Trinidad HbVar.247 alias Hb J-Ireland HbVar.247 alias Hb N-New Haven HbVar.247 alias Hb J-Georgia HbVar.247 ethnic Black HbVar.247 ethnic English HbVar.247 ethnic Dutch HbVar.247 ethnic French HbVar.247 ethnic Swedish HbVar.247 ethnic Spanish HbVar.247 phenoCommon Hemoglobin variant HbVar.248 protEffect HBB 17(A13) Gly>Arg HbVar.248 commonName Hb D-Bushman HbVar.248 ethnic Kalahari Bushman HbVar.248 phenoCommon Hemoglobin variant HbVar.249 protEffect HBB 18(A14) Lys>Glu HbVar.249 commonName Hb Nagasaki HbVar.249 ethnic Japanese HbVar.249 phenoCommon Hemoglobin variant HbVar.250 protEffect HBB 18(A14) Lys>Asn HbVar.250 commonName Hb J-Amiens HbVar.250 ethnic Spanish HbVar.250 ethnic Japanese HbVar.250 phenoCommon Hemoglobin variant HbVar.251 protEffect HBB 18(A14) Lys>Gln HbVar.251 commonName Hb Nikosia HbVar.251 ethnic Cypriot HbVar.251 phenoCommon Hemoglobin variant HbVar.252 protEffect HBB 19(A15) Val>Met HbVar.252 commonName Hb Baden HbVar.252 ethnic East German HbVar.252 phenoCommon Hemoglobin variant HbVar.253 protEffect HBB 19(A15) Val>Gly HbVar.253 commonName Hb Sinai-Baltimore HbVar.253 ethnic Black HbVar.253 phenoCommon Hemoglobin variant HbVar.254 protEffect HBB 20(B1) Asn>Lys HbVar.254 commonName Hb D-Ouled Rabah HbVar.254 ethnic Algerian HbVar.254 ethnic Tuareg tribe HbVar.254 phenoCommon Hemoglobin variant HbVar.255 protEffect HBB 20(B1) Asn>Asp HbVar.255 commonName Hb Alamo HbVar.255 ethnic Black HbVar.255 phenoCommon Hemoglobin variant HbVar.256 protEffect HBB 20(B1) Asn>Ser HbVar.256 commonName Hb Malay HbVar.256 alias Codon 19 (A->G); AAC(Asn)->AGC(Ser) beta+ HbVar.256 ethnic Thai HbVar.256 ethnic Malaysian HbVar.256 ethnic Singapore HbVar.256 ethnic Chinese HbVar.256 phenoCommon beta+ thalassemia HbVar.256 phenoCommon moderate Microcytosis HbVar.256 phenoCommon moderate Hypochromia HbVar.257 protEffect HBB 21(B2) Val>Met HbVar.257 commonName Hb Olympia HbVar.257 ethnic Caucasian HbVar.257 ethnic Algerian HbVar.257 ethnic French HbVar.257 ethnic Tunisian HbVar.257 phenoCommon Hemoglobin variant HbVar.258 protEffect HBB 21(B2) Val>Glu HbVar.258 commonName Hb Trollhattan HbVar.258 ethnic Swedish HbVar.258 phenoCommon Hemoglobin variant HbVar.259 protEffect HBB 21(B2) Val>Gly HbVar.259 commonName Hb Uxbridge HbVar.259 ethnic English HbVar.259 phenoCommon Hemoglobin variant HbVar.260 protEffect HBB 22(B3) Asp>Tyr HbVar.260 commonName Hb Yusa HbVar.260 ethnic Japanese HbVar.260 phenoCommon Hemoglobin variant HbVar.261 protEffect HBB 22(B3) Asp>Gly HbVar.261 commonName Hb Connecticut HbVar.261 ethnic Polish HbVar.261 phenoCommon Hemoglobin variant HbVar.262 protEffect HBB 22(B3) Asp>Asn HbVar.262 commonName Hb Cocody HbVar.262 ethnic Ivory Coast HbVar.262 ethnic Japanese HbVar.262 phenoCommon Hemoglobin variant HbVar.263 protEffect HBB 22(B3) Asp>His HbVar.263 commonName Hb Karlskoga HbVar.263 ethnic Swedish HbVar.263 ethnic American HbVar.263 phenoCommon Hemoglobin variant HbVar.264 protEffect HBB 23(B4) Glu>Lys HbVar.264 commonName Hb E-Saskatoon HbVar.264 ethnic Greek HbVar.264 ethnic Japanese HbVar.264 ethnic Scottish HbVar.264 ethnic Turkish HbVar.264 phenoCommon Hemoglobin variant HbVar.265 protEffect HBB 23(B4) Glu>Gly HbVar.265 commonName Hb G-Taipei HbVar.265 ethnic Chinese HbVar.265 phenoCommon Hemoglobin variant HbVar.266 protEffect HBB 23(B4) Glu>Ala HbVar.266 commonName Hb G-Coushatta HbVar.266 alias Hb G-Saskatoon HbVar.266 alias Hb G-Hsin Chu HbVar.266 alias Hb G-Taegu HbVar.266 ethnic American Indian HbVar.266 ethnic Algerian HbVar.266 ethnic Chinese HbVar.266 ethnic Japanese HbVar.266 ethnic Korean HbVar.266 ethnic Thai HbVar.266 ethnic Turkish HbVar.266 ethnic Egyptian HbVar.266 phenoCommon Hemoglobin variant HbVar.266 phenoCommon Normal HbVar.267 protEffect HBB 23(B4) Glu>Gln HbVar.267 commonName Hb D-Iran HbVar.267 ethnic Iranian HbVar.267 ethnic Pakistani HbVar.267 ethnic Jamaican HbVar.267 ethnic Italian HbVar.267 phenoCommon Hemoglobin variant HbVar.268 protEffect HBB 23(B4) Glu>Val HbVar.268 commonName Hb D-Granada HbVar.268 ethnic Gypsy HbVar.268 phenoCommon Hemoglobin variant HbVar.269 protEffect HBB 24(B5) Val>Asp HbVar.269 commonName Hb Strasbourg HbVar.269 ethnic Portuguese HbVar.269 phenoCommon Hemoglobin variant HbVar.270 protEffect HBB 24(B5) Val>Gly HbVar.270 commonName Hb Miyashiro HbVar.270 ethnic Japanese HbVar.270 phenoCommon Hemoglobin variant HbVar.271 protEffect HBB 24(B5) Val>Phe HbVar.271 commonName Hb Palmerston North HbVar.271 ethnic New Zealand HbVar.271 ethnic American HbVar.271 phenoCommon Hemoglobin variant HbVar.272 protEffect HBB 25(B6) Gly>Arg HbVar.272 commonName Hb Riverdale-Bronx HbVar.272 ethnic German HbVar.272 ethnic Jewish HbVar.272 phenoCommon Hemoglobin variant HbVar.273 protEffect HBB 25(B6) Gly>Val HbVar.273 commonName Hb Savannah HbVar.273 ethnic Caucasian HbVar.273 phenoCommon Hemoglobin variant HbVar.274 protEffect HBB 25(B6) Gly>Asp HbVar.274 commonName Hb Moscva HbVar.274 ethnic Russian HbVar.274 phenoCommon Hemoglobin variant HbVar.275 protEffect HBB 26(B7) Gly>Arg HbVar.275 commonName Hb G-Taiwan-Ami HbVar.275 ethnic Aborigine HbVar.275 phenoCommon Hemoglobin variant HbVar.276 protEffect HBB 26(B7) Gly>Asp HbVar.276 commonName Hb J-Auckland HbVar.276 ethnic Scandinavian HbVar.276 ethnic Scottish HbVar.276 phenoCommon Hemoglobin variant HbVar.277 protEffect HBB 27(B8) Glu>Lys HbVar.277 commonName Hb E HbVar.277 alias Codon 26 (GAG->AAG) beta+ HbVar.277 ethnic Far East HbVar.277 phenoCommon Thalassemia HbVar.277 hap -++-+++- HbVar.277 hap +-----+- HbVar.277 hap -++-++-+ HbVar.277 hap +-++-++- HbVar.277 hap +.----++ HbVar.277 phenoCommon mild Anemia HbVar.277 phenoCommon hemolytic Anemia HbVar.277 phenoCommon Target cells HbVar.278 protEffect HBB 27(B8) Glu>Val HbVar.278 commonName Hb Henri Mondor HbVar.278 ethnic African HbVar.278 phenoCommon Hemoglobin variant HbVar.279 protEffect HBB 27(B8) Glu>Gly HbVar.279 commonName Hb Aubenas HbVar.279 ethnic French HbVar.279 phenoCommon Hemoglobin variant HbVar.280 protEffect HBB 28(B9) Ala>Asp HbVar.280 commonName Hb Volga HbVar.280 alias Hb Drenthe HbVar.280 ethnic Russian HbVar.280 ethnic Dutch HbVar.280 ethnic Egyptian HbVar.280 phenoCommon Hemoglobin variant HbVar.281 protEffect HBB 28(B9) Ala>Ser HbVar.281 commonName Hb Knossos HbVar.281 alias Codon 27 (G->T); GCC(Ala)->TCC(Ser) beta+ HbVar.281 ethnic Jordan HbVar.281 ethnic Egyptian HbVar.281 ethnic Tunisian HbVar.281 ethnic Algerian HbVar.281 phenoCommon beta+ thalassemia HbVar.281 phenoCommon moderate Anemia HbVar.281 phenoCommon marked Microcytosis HbVar.281 phenoCommon marked Hypochromia HbVar.282 protEffect HBB 28(B9) Ala>Val HbVar.282 commonName Hb Grange-Blanche HbVar.282 ethnic Portuguese HbVar.282 phenoCommon Hemoglobin variant HbVar.283 protEffect HBB 28(B9) Ala>Gly HbVar.283 commonName Hb Siirt HbVar.283 ethnic Kurdish HbVar.283 phenoCommon Hemoglobin variant HbVar.284 protEffect HBB 29(B10) Leu>Gln HbVar.284 commonName Hb Saint Louis HbVar.284 ethnic Yugoslavian HbVar.284 ethnic Slovakian HbVar.284 ethnic French HbVar.284 phenoCommon Hemoglobin variant HbVar.285 protEffect HBB 29(B10) Leu>Pro HbVar.285 commonName Hb Genova HbVar.285 alias Hb Hyogo HbVar.285 ethnic European HbVar.285 ethnic East Indian HbVar.285 ethnic Kenyan HbVar.285 ethnic Cuban HbVar.285 ethnic Libyan HbVar.285 ethnic Japanese HbVar.285 phenoCommon Hemoglobin variant HbVar.286 protEffect HBB 29(B10) Leu>Arg HbVar.286 commonName Hb Chesterfield HbVar.286 alias Codon 28 (T->G); CTG(Leu)->CGG(Arg) beta+ (inclusion body or dominant beta-thal) HbVar.286 ethnic English HbVar.286 phenoCommon beta+ thalassemia HbVar.287 protEffect HBB 29(B10) Leu>Met HbVar.287 commonName Hb Chile HbVar.287 ethnic American Indian HbVar.287 phenoCommon Hemoglobin variant HbVar.288 protEffect HBB 30(B11) Gly>Asp HbVar.288 commonName Hb Lufkin HbVar.288 ethnic Black HbVar.288 phenoCommon Hemoglobin variant HbVar.289 protEffect HBB 31(B12) Arg>Ser HbVar.289 commonName Hb Tacoma HbVar.289 ethnic Russian HbVar.289 ethnic Finnish HbVar.289 ethnic Swedish HbVar.289 ethnic American HbVar.289 phenoCommon Hemoglobin variant HbVar.290 protEffect HBB 31(B12) Arg>Thr HbVar.290 commonName Hb Monroe HbVar.290 alias Hb Kairouan HbVar.290 alias IVS-I (-1) or codon 30 (G->C); AG^GTTGGT->AC^GTTGGT beta0 HbVar.290 ethnic Black HbVar.290 ethnic Libyan HbVar.290 ethnic Tunisian HbVar.290 phenoCommon beta0 thalassemia HbVar.291 protEffect HBB 32(B13) Leu>Pro HbVar.291 commonName Hb Yokohama HbVar.291 ethnic Japanese HbVar.291 ethnic Serbian HbVar.291 ethnic Pakistani HbVar.291 phenoCommon Hemoglobin variant HbVar.292 protEffect HBB 32(B13) Leu>Arg HbVar.292 commonName Hb Hakkari HbVar.292 ethnic Turkish HbVar.292 ethnic Yugoslavian HbVar.292 phenoCommon Hemoglobin variant HbVar.293 protEffect HBB 33(B14) Leu>Pro HbVar.293 commonName Hb Perth HbVar.293 alias Hb Kobe HbVar.293 alias Hb Abraham Lincoln HbVar.293 ethnic Australian HbVar.293 ethnic Black HbVar.293 ethnic French HbVar.293 ethnic Hottentot HbVar.293 ethnic Taiwanese HbVar.293 phenoCommon Hemoglobin variant HbVar.294 protEffect HBB 33(B14) Leu>Arg HbVar.294 commonName Hb Castilla HbVar.294 ethnic Spanish HbVar.294 ethnic Asian Indian HbVar.294 phenoCommon Hemoglobin variant HbVar.295 protEffect HBB 33(B14) Leu>Val HbVar.295 commonName Hb Muscat HbVar.295 ethnic Arabian HbVar.295 phenoCommon Hemoglobin variant HbVar.296 protEffect HBB 35(B16) Val>Phe HbVar.296 commonName Hb Pitie-Salpetriere HbVar.296 ethnic Japanese HbVar.296 ethnic French HbVar.296 phenoCommon Hemoglobin variant HbVar.297 protEffect HBB 36(C1) Tyr>Phe HbVar.297 commonName Hb Philly HbVar.297 ethnic German HbVar.297 ethnic French HbVar.297 ethnic Italian HbVar.297 phenoCommon Hemoglobin variant HbVar.298 protEffect HBB 37(C2) Pro>Thr HbVar.298 commonName Hb Linkoping HbVar.298 alias Hb Meilahti HbVar.298 alias Hb Finlandia HbVar.298 ethnic Finnish HbVar.298 ethnic Dutch HbVar.298 phenoCommon Hemoglobin variant HbVar.299 protEffect HBB 37(C2) Pro>Ser HbVar.299 commonName Hb North Chicago HbVar.299 ethnic Black HbVar.299 phenoCommon Hemoglobin variant HbVar.300 protEffect HBB 37(C2) Pro>Arg HbVar.300 commonName Hb Sunnybrook HbVar.300 ethnic European HbVar.300 phenoCommon Hemoglobin variant HbVar.301 protEffect HBB 37(C2) Pro>His HbVar.301 commonName Hb Vila Real HbVar.301 ethnic Portuguese HbVar.301 phenoCommon Hemoglobin variant HbVar.302 protEffect HBB 38(C3) Trp>Ser HbVar.302 commonName Hb Hirose HbVar.302 ethnic Japanese HbVar.302 phenoCommon Hemoglobin variant HbVar.303 protEffect HBB 38(C3) Trp>Arg HbVar.303 commonName Hb Rothschild HbVar.303 ethnic Caucasian HbVar.303 phenoCommon Hemoglobin variant HbVar.304 protEffect HBB 38(C3) Trp>Gly HbVar.304 commonName Hb Howick HbVar.304 phenoCommon Hemoglobin variant HbVar.305 protEffect HBB 39(C4) Thr>Pro HbVar.305 commonName Hb Hazebrouck HbVar.305 ethnic French HbVar.305 phenoCommon Hemoglobin variant HbVar.306 protEffect HBB 39(C4) Thr>Asn HbVar.306 commonName Hb Hinwil HbVar.306 ethnic Swiss HbVar.306 phenoCommon Hemoglobin variant HbVar.307 protEffect HBB 40(C5) Gln>Lys HbVar.307 commonName Hb Alabama HbVar.307 ethnic Black HbVar.307 phenoCommon Hemoglobin variant HbVar.308 protEffect HBB 40(C5) Gln>Glu HbVar.308 commonName Hb Vaasa HbVar.308 ethnic Finnish HbVar.308 phenoCommon Hemoglobin variant HbVar.309 protEffect HBB 40(C5) Gln>Arg HbVar.309 commonName Hb Tianshui HbVar.309 ethnic Chinese HbVar.309 phenoCommon Hemoglobin variant HbVar.310 protEffect HBB 41(C6) Arg>Lys HbVar.310 commonName Hb Athens-GA HbVar.310 alias Hb Waco HbVar.310 ethnic Caucasian HbVar.310 phenoCommon Hemoglobin variant HbVar.311 protEffect HBB 41(C6) Arg>Ser HbVar.311 commonName Hb Austin HbVar.311 ethnic Mexican HbVar.311 phenoCommon Hemoglobin variant HbVar.312 protEffect HBB 42(C7) Phe>Tyr HbVar.312 commonName Hb Mequon HbVar.312 ethnic English HbVar.312 ethnic Irish HbVar.312 phenoCommon Hemoglobin variant HbVar.313 protEffect HBB 42(C7) Phe>Ser HbVar.313 commonName Hb Denver HbVar.313 ethnic Caucasian HbVar.313 phenoCommon Hemoglobin variant HbVar.314 protEffect HBB 43(CD1) Phe>Ser HbVar.314 commonName Hb Hammersmith HbVar.314 alias Hb Chiba HbVar.314 ethnic American Indian HbVar.314 ethnic Caucasian HbVar.314 ethnic African-American HbVar.314 ethnic English HbVar.314 ethnic Japanese HbVar.314 phenoCommon Hemoglobin variant HbVar.315 protEffect HBB 43(CD1) Phe>Leu HbVar.315 commonName Hb Louisville HbVar.315 alias Hb Bucuresti HbVar.315 ethnic English HbVar.315 ethnic Irish HbVar.315 ethnic Rumanian HbVar.315 ethnic Cuban HbVar.315 ethnic Canadian HbVar.315 phenoCommon Hemoglobin variant HbVar.316 protEffect HBB 43(CD1) Phe>Val HbVar.316 commonName Hb Sendagi HbVar.316 alias Hb Warsaw HbVar.316 ethnic Japanese HbVar.316 ethnic Polish HbVar.316 ethnic American HbVar.316 phenoCommon Hemoglobin variant HbVar.317 protEffect HBB 44(CD2) Glu>Ala HbVar.317 commonName Hb G-Galveston HbVar.317 alias Hb G-Port Arthur HbVar.317 alias Hb G-Texas HbVar.317 ethnic Black HbVar.317 phenoCommon Hemoglobin variant HbVar.318 protEffect HBB 44(CD2) Glu>Gln HbVar.318 commonName Hb Hoshida HbVar.318 alias Hb Chaya HbVar.318 ethnic Japanese HbVar.318 ethnic Yugoslavian HbVar.318 phenoCommon Hemoglobin variant HbVar.319 protEffect HBB 45(CD3) Ser>Cys HbVar.319 commonName Hb Mississippi HbVar.319 ethnic Chinese HbVar.319 phenoCommon Hemoglobin variant HbVar.320 protEffect HBB 46(CD4) Phe>Ser HbVar.320 commonName Hb Cheverly HbVar.320 ethnic Italian HbVar.320 ethnic Caucasian HbVar.320 phenoCommon Hemoglobin variant HbVar.321 protEffect HBB 46(CD4) Phe>Cys HbVar.321 commonName Hb Arta HbVar.321 ethnic Greek HbVar.321 phenoCommon Hemoglobin variant HbVar.322 protEffect HBB 47(CD5) Gly>Glu HbVar.322 commonName Hb K-Ibadan HbVar.322 ethnic African Yoruba HbVar.322 ethnic Italian HbVar.322 phenoCommon Hemoglobin variant HbVar.323 protEffect HBB 47(CD5) Gly>Arg HbVar.323 commonName Hb Gainesville-GA HbVar.323 ethnic Black HbVar.323 phenoCommon Hemoglobin variant HbVar.324 protEffect HBB 48(CD6) Asp>Asn HbVar.324 commonName Hb G-Copenhagen HbVar.324 ethnic Danish HbVar.324 ethnic Sicilian HbVar.324 ethnic Black HbVar.324 ethnic American HbVar.324 phenoCommon Hemoglobin variant HbVar.325 protEffect HBB 48(CD6) Asp>Gly HbVar.325 commonName Hb Gavello HbVar.325 ethnic Italian HbVar.325 phenoCommon Hemoglobin variant HbVar.326 protEffect HBB 48(CD6) Asp>Ala HbVar.326 commonName Hb Avicenna HbVar.326 ethnic Iranian HbVar.326 phenoCommon Hemoglobin variant HbVar.327 protEffect HBB 48(CD6) Asp>Tyr HbVar.327 commonName Hb Maputo HbVar.327 ethnic Mozambique HbVar.327 ethnic Caucasian HbVar.327 phenoCommon Hemoglobin variant HbVar.328 protEffect HBB 49(CD7) Leu>Arg HbVar.328 commonName Hb Okaloosa HbVar.328 ethnic Caucasian HbVar.328 phenoCommon Hemoglobin variant HbVar.329 protEffect HBB 49(CD7) Leu>Pro HbVar.329 commonName Hb Bab-Saadoun HbVar.329 ethnic Tunisian HbVar.329 phenoCommon Hemoglobin variant HbVar.330 protEffect HBB 50(CD8) Ser>Phe HbVar.330 commonName Hb Las Palmas HbVar.330 ethnic Canary Islands HbVar.330 phenoCommon Hemoglobin variant HbVar.331 protEffect HBB 51(D1) Thr>Lys HbVar.331 commonName Hb Edmonton HbVar.331 ethnic Ukrainian HbVar.331 phenoCommon Hemoglobin variant HbVar.332 protEffect HBB 52(D2) Pro>Arg HbVar.332 commonName Hb Willamette HbVar.332 ethnic Black HbVar.332 phenoCommon Hemoglobin variant HbVar.333 protEffect HBB 52(D2) Pro>His HbVar.333 commonName Hb North Manchester HbVar.333 phenoCommon Hemoglobin variant HbVar.334 protEffect HBB 53(D3) Asp>Asn HbVar.334 commonName Hb Osu Christiansborg HbVar.334 ethnic Black HbVar.334 ethnic Ghanaian HbVar.334 ethnic Greek HbVar.334 ethnic Iranian HbVar.334 phenoCommon Hemoglobin variant HbVar.335 protEffect HBB 53(D3) Asp>Ala HbVar.335 commonName Hb Ocho Rios HbVar.335 ethnic Jamaican HbVar.335 phenoCommon Hemoglobin variant HbVar.336 protEffect HBB 53(D3) Asp>His HbVar.336 commonName Hb Summer Hill HbVar.336 ethnic Lebanese HbVar.336 ethnic Turkish HbVar.336 phenoCommon Hemoglobin variant HbVar.337 protEffect HBB 53(D3) Asp>Gly HbVar.337 commonName Hb Hokusetsu HbVar.337 alias Hb Kurashiki-II HbVar.337 ethnic Japanese HbVar.337 ethnic German HbVar.337 phenoCommon Hemoglobin variant HbVar.338 protEffect HBB 53(D3) Asp>Val HbVar.338 commonName Hb Akron HbVar.338 ethnic American Indian HbVar.338 ethnic French HbVar.338 ethnic Polish HbVar.338 phenoCommon Hemoglobin variant HbVar.339 protEffect HBB 54(D4) Ala>Thr HbVar.339 commonName Hb Acharnes HbVar.339 ethnic Greek HbVar.339 phenoCommon Hemoglobin variant HbVar.340 protEffect HBB 55(D5) Val>Asp HbVar.340 commonName Hb Jacksonville HbVar.340 ethnic Black HbVar.340 phenoCommon Hemoglobin variant HbVar.341 protEffect HBB 56(D6) Met>Lys HbVar.341 commonName Hb Matera HbVar.341 ethnic Italian HbVar.341 phenoCommon Hemoglobin variant HbVar.342 protEffect HBB 57(D7) Gly>Asp HbVar.342 commonName Hb J-Bangkok HbVar.342 alias Hb J-Manado HbVar.342 alias Hb J-Meinung HbVar.342 alias Hb J-Korat HbVar.342 ethnic Black HbVar.342 ethnic Chinese HbVar.342 ethnic Indonesian HbVar.342 ethnic Thai HbVar.342 phenoCommon Hemoglobin variant HbVar.343 protEffect HBB 57(D7) Gly>Arg HbVar.343 commonName Hb Hamadan HbVar.343 ethnic Japanese HbVar.343 ethnic Iranian HbVar.343 ethnic French Caucasian HbVar.343 ethnic Turkish HbVar.343 phenoCommon Hemoglobin variant HbVar.344 protEffect HBB 58(E1) Asn>Lys HbVar.344 commonName Hb G-Ferrara HbVar.344 ethnic Italian HbVar.344 phenoCommon Hemoglobin variant HbVar.345 protEffect HBB 58(E1) Asn>Asp HbVar.345 commonName Hb J-Daloa HbVar.345 ethnic Bete tribe HbVar.345 phenoCommon Hemoglobin variant HbVar.346 protEffect HBB 59(E2) Pro>Arg HbVar.346 commonName Hb Dhofar HbVar.346 alias Hb Yukuhashi HbVar.346 ethnic Qara tribesman HbVar.346 phenoCommon Hemoglobin variant HbVar.347 protEffect HBB 60(E3) Lys>Glu HbVar.347 commonName Hb I-High Wycombe HbVar.347 ethnic English HbVar.347 ethnic German HbVar.347 ethnic Japanese HbVar.347 ethnic Scottish HbVar.347 phenoCommon Hemoglobin variant HbVar.348 protEffect HBB 60(E3) Lys>Thr HbVar.348 commonName Hb J-Kaohsiung HbVar.348 alias Hb J-Honolulu HbVar.348 ethnic Chinese HbVar.348 phenoCommon Hemoglobin variant HbVar.350 protEffect HBB 61(E4) Val>Leu HbVar.350 commonName Hb Yatsushiro HbVar.350 ethnic Japanese HbVar.350 phenoCommon Hemoglobin variant HbVar.351 protEffect HBB 61(E4) Val>Ala HbVar.351 commonName Hb Collingwood HbVar.351 ethnic Greek HbVar.351 phenoCommon Hemoglobin variant HbVar.352 protEffect HBB 61(E4) Val>Glu HbVar.352 commonName Hb Cagliari HbVar.352 alias Codon 60 (T->A); GTG(Val)->GAG(Glu) beta+ (abnormal betaX identified by IEF after labeling) HbVar.352 ethnic Italian HbVar.352 phenoCommon beta+ thalassemia HbVar.353 protEffect HBB 62(E5) Lys>Glu HbVar.353 commonName Hb N-Seattle HbVar.353 ethnic Black HbVar.353 phenoCommon Hemoglobin variant HbVar.354 protEffect HBB 62(E5) Lys>Asn HbVar.354 commonName Hb Hikari HbVar.354 ethnic Japanese HbVar.354 phenoCommon Hemoglobin variant HbVar.355 protEffect HBB 62(E5) Lys>Met HbVar.355 commonName Hb Bologna HbVar.355 ethnic North Italian HbVar.355 phenoCommon Hemoglobin variant HbVar.356 protEffect HBB 63(E6) Ala>Pro HbVar.356 commonName Hb Duarte HbVar.356 ethnic German HbVar.356 phenoCommon Hemoglobin variant HbVar.357 protEffect HBB 63(E6) Ala>Asp HbVar.357 commonName Hb J-Europa HbVar.357 ethnic Italian HbVar.357 phenoCommon Hemoglobin variant HbVar.358 protEffect HBB 64(E7) His>Arg HbVar.358 commonName Hb Zurich HbVar.358 ethnic Swiss HbVar.358 ethnic American HbVar.358 ethnic Japanese HbVar.358 phenoCommon Hemoglobin variant HbVar.359 protEffect HBB 64(E7) His>Tyr HbVar.359 commonName Hb M-Saskatoon HbVar.359 alias Hb M-Emory HbVar.359 alias Hb M-Kurume HbVar.359 alias Hb M-Radom HbVar.359 alias Hb M-Arhus HbVar.359 alias Hb Leipzig HbVar.359 alias Hb Horlein-Weber HbVar.359 alias Hb Novi Sad HbVar.359 alias Hb M-Erlangen HbVar.359 alias Hb M-Hamburg HbVar.359 alias Hb M-Hida HbVar.359 alias Hb M-Chicago HbVar.359 ethnic American HbVar.359 ethnic Japanese HbVar.359 ethnic English HbVar.359 ethnic Danish HbVar.359 ethnic Norwegian HbVar.359 ethnic Yugoslavian HbVar.359 ethnic Canadian HbVar.359 ethnic Polish HbVar.359 ethnic German HbVar.359 phenoCommon Hemoglobin variant HbVar.360 protEffect HBB 64(E7) His>Pro HbVar.360 commonName Hb Bicetre HbVar.360 ethnic American HbVar.360 ethnic French HbVar.360 phenoCommon Hemoglobin variant HbVar.361 protEffect HBB 64(E7) His>Asn HbVar.361 commonName Hb Hana HbVar.361 ethnic Czech HbVar.361 phenoCommon Hemoglobin variant HbVar.362 protEffect HBB 65(E8) Gly>Asp HbVar.362 commonName Hb J-Calabria HbVar.362 alias Hb J-Bari HbVar.362 alias Hb J-Cosenza HbVar.362 ethnic French HbVar.362 ethnic Chinese HbVar.362 phenoCommon Hemoglobin variant HbVar.363 protEffect HBB 66(E9) Lys>Asn HbVar.363 commonName Hb J-Sicilia HbVar.363 ethnic Sicilian HbVar.363 phenoCommon Hemoglobin variant HbVar.364 protEffect HBB 66(E9) Lys>Gln HbVar.364 commonName Hb J-Cairo HbVar.364 ethnic Egyptian HbVar.364 phenoCommon Hemoglobin variant HbVar.365 protEffect HBB 66(E9) Lys>Met HbVar.365 commonName Hb J-Antakya HbVar.365 ethnic Southern Turkish HbVar.365 phenoCommon Hemoglobin variant HbVar.366 protEffect HBB 67(E10) Lys>Glu HbVar.366 commonName Hb I-Toulouse HbVar.366 ethnic French HbVar.366 ethnic Nicaraguan HbVar.366 phenoCommon Hemoglobin variant HbVar.367 protEffect HBB 67(E10) Lys>Thr HbVar.367 commonName Hb Chico HbVar.367 ethnic American HbVar.367 phenoCommon Hemoglobin variant HbVar.368 protEffect HBB 68(E11) Val>Glu HbVar.368 commonName Hb M-Milwaukee-I HbVar.368 phenoCommon Hemoglobin variant HbVar.369 protEffect HBB 68(E11) Val>Met OR HBB 68(E11) Val>Asp HbVar.369 commonName Hb Bristol HbVar.369 alias Hb Bristol-Alesha HbVar.369 ethnic English HbVar.369 phenoCommon Hemoglobin variant HbVar.370 protEffect HBB 68(E11) Val>Met HbVar.370 commonName Hb Alesha HbVar.370 alias Hb Bristol-Alesha HbVar.370 ethnic Russian HbVar.370 phenoCommon Hemoglobin variant HbVar.371 protEffect HBB 68(E11) Val>Ala HbVar.371 commonName Hb Sydney HbVar.371 ethnic German HbVar.371 ethnic English HbVar.371 phenoCommon Hemoglobin variant HbVar.372 protEffect HBB 68(E11) Val>Gly HbVar.372 commonName Hb Manukau HbVar.372 ethnic Niuean HbVar.372 ethnic Maori HbVar.372 phenoCommon Hemoglobin variant HbVar.373 protEffect HBB 69(E12) Leu>Pro HbVar.373 commonName Hb Mizuho HbVar.373 ethnic Japanese HbVar.373 ethnic Italian HbVar.373 ethnic Caucasian HbVar.373 ethnic Dutch HbVar.373 phenoCommon Hemoglobin variant HbVar.374 protEffect HBB 69(E12) Leu>His HbVar.374 commonName Hb Brisbane HbVar.374 alias Hb Great Lakes HbVar.374 ethnic New Zealand HbVar.374 ethnic Caucasian HbVar.374 phenoCommon Hemoglobin variant HbVar.375 protEffect HBB 69(E12) Leu>Phe HbVar.375 commonName Hb Loves Park HbVar.375 ethnic Italian HbVar.375 phenoCommon Hemoglobin variant HbVar.376 protEffect HBB 70(E13) Gly>Asp HbVar.376 commonName Hb Rambam HbVar.376 alias Hb J-Cambridge HbVar.376 ethnic Argentine HbVar.376 ethnic Bedouin HbVar.376 ethnic English HbVar.376 ethnic German HbVar.376 phenoCommon Hemoglobin variant HbVar.377 protEffect HBB 70(E13) Gly>Ser HbVar.377 commonName Hb City of Hope HbVar.377 ethnic Caucasian HbVar.377 ethnic Italian HbVar.377 ethnic Turkish HbVar.377 ethnic Jewish HbVar.377 phenoCommon Hemoglobin variant HbVar.378 protEffect HBB 70(E13) Gly>Arg HbVar.378 commonName Hb Kenitra HbVar.378 ethnic Moroccan HbVar.378 phenoCommon Hemoglobin variant HbVar.379 protEffect HBB 71(E14) Ala>Asp HbVar.379 commonName Hb Seattle HbVar.379 ethnic Caucasian HbVar.379 ethnic Ukrainian HbVar.379 phenoCommon Hemoglobin variant HbVar.380 protEffect HBB 72(E15) Phe>Ser HbVar.380 commonName Hb Christchurch HbVar.380 ethnic Australian HbVar.380 ethnic Japanese HbVar.380 phenoCommon Hemoglobin variant HbVar.381 protEffect HBB 73(E16) Ser>Arg HbVar.381 commonName Hb Headington HbVar.381 ethnic Asian Indian HbVar.381 phenoCommon Hemoglobin variant HbVar.382 protEffect HBB 74(E17) Asp>Tyr HbVar.382 commonName Hb Vancouver HbVar.382 ethnic Chinese HbVar.382 phenoCommon Hemoglobin variant HbVar.383 protEffect HBB 74(E17) Asp>Asn HbVar.383 commonName Hb G-Accra HbVar.383 alias Hb Korle-Bu HbVar.383 ethnic Black HbVar.383 phenoCommon Hemoglobin variant HbVar.384 protEffect HBB 74(E17) Asp>Val HbVar.384 commonName Hb Mobile HbVar.384 ethnic Black HbVar.384 phenoCommon Hemoglobin variant HbVar.385 protEffect HBB 74(E17) Asp>Gly HbVar.385 commonName Hb Tilburg HbVar.385 ethnic Dutch HbVar.385 phenoCommon Hemoglobin variant HbVar.386 protEffect HBB 75(E18) Gly>Val HbVar.386 commonName Hb Bushwick HbVar.386 ethnic Italian HbVar.386 ethnic American HbVar.386 ethnic Japanese HbVar.386 ethnic Yugoslavian HbVar.386 ethnic Pakistani HbVar.386 phenoCommon Hemoglobin variant HbVar.386 phenoCommon severe Anemia HbVar.386 phenoCommon chronic Anemia HbVar.386 phenoCommon hemolytic Anemia HbVar.387 protEffect HBB 75(E18) Gly>Asp HbVar.387 commonName Hb Shepherds Bush HbVar.387 ethnic English HbVar.387 ethnic Sicilian HbVar.387 phenoCommon Hemoglobin variant HbVar.388 protEffect HBB 75(E18) Gly>Arg HbVar.388 commonName Hb Aalborg HbVar.388 phenoCommon Hemoglobin variant HbVar.389 protEffect HBB 76(E19) Leu>Pro HbVar.389 commonName Hb Atlanta HbVar.389 ethnic Caucasian HbVar.389 ethnic New Zealand HbVar.389 ethnic Dutch HbVar.389 phenoCommon Hemoglobin variant HbVar.390 protEffect HBB 76(E19) Leu>Arg HbVar.390 commonName Hb Pasadena HbVar.390 ethnic French HbVar.390 phenoCommon Hemoglobin variant HbVar.391 protEffect HBB 77(E20) Ala>Asp HbVar.391 commonName Hb J-Chicago HbVar.391 ethnic Black HbVar.391 ethnic Spanish HbVar.391 phenoCommon Hemoglobin variant HbVar.392 protEffect HBB 77(E20) Ala>Pro HbVar.392 commonName Hb Calais HbVar.392 ethnic French HbVar.392 phenoCommon Hemoglobin variant HbVar.393 protEffect HBB 78(EF1) His>Asp HbVar.393 commonName Hb J-Iran HbVar.393 ethnic Iranian HbVar.393 ethnic Turkish HbVar.393 phenoCommon Hemoglobin variant HbVar.394 protEffect HBB 78(EF1) His>Tyr HbVar.394 commonName Hb Fukuyama HbVar.394 ethnic Japanese HbVar.394 ethnic Caucasian HbVar.394 ethnic Indonesian HbVar.394 ethnic Swedish HbVar.394 phenoCommon Hemoglobin variant HbVar.395 protEffect HBB 78(EF1) His>Arg HbVar.395 commonName Hb Costa Rica HbVar.395 ethnic Costa Rican HbVar.395 phenoCommon Hemoglobin variant HbVar.396 protEffect HBB 78(EF1) His>Gln HbVar.396 commonName Hb Vienna HbVar.396 ethnic Austrian HbVar.396 phenoCommon Hemoglobin variant HbVar.397 protEffect HBB 79(EF2) Leu>Arg HbVar.397 commonName Hb Quin-Hai HbVar.397 ethnic Chinese HbVar.397 phenoCommon Hemoglobin variant HbVar.398 protEffect HBB 80(EF3) Asp>Gly HbVar.398 commonName Hb G-Hsi-Tsou HbVar.398 ethnic Chinese HbVar.398 ethnic Greek HbVar.398 phenoCommon Hemoglobin variant HbVar.399 protEffect HBB 80(EF3) Asp>Tyr HbVar.399 commonName Hb Tampa HbVar.399 ethnic Caucasian HbVar.399 phenoCommon Hemoglobin variant HbVar.399 phenoCommon Normal HbVar.400 protEffect HBB 80(EF3) Asp>His HbVar.400 commonName Hb Tigraye HbVar.400 ethnic Sardinian HbVar.400 ethnic Ethiopian HbVar.400 phenoCommon Hemoglobin variant HbVar.401 protEffect HBB 80(EF3) Asp>Asn HbVar.401 commonName Hb Yaizu HbVar.401 ethnic Japanese HbVar.401 phenoCommon Hemoglobin variant HbVar.402 protEffect HBB 81(EF4) Asn>Lys HbVar.402 commonName Hb G-Szuhu HbVar.402 alias Hb Gifu HbVar.402 ethnic Chinese HbVar.402 ethnic Japanese HbVar.402 ethnic Jewish HbVar.402 ethnic English HbVar.402 ethnic Spanish HbVar.402 ethnic Sicilian HbVar.402 phenoCommon Hemoglobin variant HbVar.403 protEffect HBB 82(EF5) Leu>Arg HbVar.403 commonName Hb Baylor HbVar.403 ethnic Italian HbVar.403 ethnic Irish HbVar.403 phenoCommon Hemoglobin variant HbVar.404 protEffect HBB 82(EF5) Leu>His HbVar.404 commonName Hb La Roche-sur-Yon HbVar.404 ethnic Portuguese HbVar.404 phenoCommon Hemoglobin variant HbVar.405 protEffect HBB 83(EF6) Lys>Asn HbVar.405 commonName Hb Providence HbVar.405 ethnic Black HbVar.405 ethnic Japanese HbVar.405 phenoCommon Hemoglobin variant HbVar.406 protEffect HBB 83(EF6) Lys>Thr HbVar.406 commonName Hb Rahere HbVar.406 ethnic English HbVar.406 ethnic Japanese HbVar.406 phenoCommon Hemoglobin variant HbVar.407 protEffect HBB 83(EF6) Lys>Met HbVar.407 commonName Hb Helsinki HbVar.407 ethnic Finnish HbVar.407 phenoCommon Hemoglobin variant HbVar.408 protEffect HBB 83(EF6) Lys>Gln HbVar.408 commonName Hb Tsurumai HbVar.408 ethnic Japanese HbVar.408 phenoCommon Hemoglobin variant HbVar.409 protEffect HBB 83(EF6) Lys>Glu HbVar.409 commonName Hb Gambara HbVar.409 ethnic Italian HbVar.409 phenoCommon Hemoglobin variant HbVar.410 protEffect HBB 84(EF7) Gly>Cys HbVar.410 commonName Hb Ta-Li HbVar.410 ethnic Chinese HbVar.410 phenoCommon Hemoglobin variant HbVar.411 protEffect HBB 84(EF7) Gly>Asp HbVar.411 commonName Hb Pyrgos HbVar.411 alias Hb Mizunami HbVar.411 ethnic African HbVar.411 ethnic Greek HbVar.411 ethnic Italian HbVar.411 ethnic Japanese HbVar.411 ethnic Thai HbVar.411 phenoCommon Hemoglobin variant HbVar.412 protEffect HBB 84(EF7) Gly>Arg HbVar.412 commonName Hb Muskegon HbVar.412 ethnic American HbVar.412 phenoCommon Hemoglobin variant HbVar.413 protEffect HBB 85(EF8) Thr>Ile HbVar.413 commonName Hb Kofu HbVar.413 ethnic Japanese HbVar.413 phenoCommon Hemoglobin variant HbVar.414 protEffect HBB 86(F1) Phe>Ser HbVar.414 commonName Hb Buenos Aires HbVar.414 alias Hb Bryn Mawr HbVar.414 ethnic Argentine HbVar.414 ethnic Japanese HbVar.414 ethnic Caucasian HbVar.414 phenoCommon Hemoglobin variant HbVar.415 protEffect HBB 87(F2) Ala>Asp HbVar.415 commonName Hb Olomouc HbVar.415 ethnic Czech HbVar.415 ethnic Japanese HbVar.415 ethnic American HbVar.415 phenoCommon Hemoglobin variant HbVar.416 protEffect HBB 88(F3) Thr>Lys HbVar.416 commonName Hb D-Ibadan HbVar.416 ethnic Nigerian HbVar.416 ethnic Black HbVar.416 phenoCommon Hemoglobin variant HbVar.417 protEffect HBB 88(F3) Thr>Pro HbVar.417 commonName Hb Valletta HbVar.417 ethnic Italian HbVar.417 ethnic Maltese HbVar.417 phenoCommon Hemoglobin variant HbVar.418 protEffect HBB 88(F3) Thr>Ile HbVar.418 commonName Hb Quebec-Chori HbVar.418 ethnic English HbVar.418 ethnic French HbVar.418 ethnic Canadian HbVar.418 ethnic Irish HbVar.418 ethnic Ghanaian HbVar.418 phenoCommon Hemoglobin variant HbVar.419 protEffect HBB 89(F4) Leu>Arg HbVar.419 commonName Hb Boras HbVar.419 ethnic Swedish HbVar.419 ethnic South African HbVar.419 phenoCommon Hemoglobin variant HbVar.420 protEffect HBB 89(F4) Leu>Pro HbVar.420 commonName Hb Santa Ana HbVar.420 ethnic Caucasian HbVar.420 ethnic Hungarian HbVar.420 ethnic French HbVar.420 ethnic Japanese HbVar.420 ethnic American HbVar.420 phenoCommon Hemoglobin variant HbVar.421 protEffect HBB 90(F5) Ser>Asn HbVar.421 commonName Hb Creteil HbVar.421 ethnic French HbVar.421 phenoCommon Hemoglobin variant HbVar.422 protEffect HBB 90(F5) Ser>Arg HbVar.422 commonName Hb Vanderbilt HbVar.422 ethnic Caucasian HbVar.422 phenoCommon Hemoglobin variant HbVar.423 protEffect HBB 90(F5) Ser>Thr HbVar.423 commonName Hb Villaverde HbVar.423 ethnic Spanish HbVar.423 phenoCommon Hemoglobin variant HbVar.424 protEffect HBB 91(F6) Glu>Lys HbVar.424 commonName Hb Agenogi HbVar.424 ethnic African-American HbVar.424 ethnic Hungarian HbVar.424 ethnic Italian HbVar.424 ethnic Japanese HbVar.424 phenoCommon Hemoglobin variant HbVar.425 protEffect HBB 91(F6) Glu>Gly HbVar.425 commonName Hb Roseau-Pointe a Pitre HbVar.425 ethnic Dominican HbVar.425 phenoCommon Hemoglobin variant HbVar.426 protEffect HBB 91(F6) Glu>Asp HbVar.426 commonName Hb Pierre-Benite HbVar.426 ethnic Caucasian HbVar.426 phenoCommon Hemoglobin variant HbVar.427 protEffect HBB 92(F7) Leu>Pro HbVar.427 commonName Hb Sabine HbVar.427 ethnic Scottish HbVar.427 ethnic English HbVar.427 ethnic German HbVar.427 ethnic Yugoslavian HbVar.427 phenoCommon Hemoglobin variant HbVar.428 protEffect HBB 92(F7) Leu>Arg HbVar.428 commonName Hb Caribbean HbVar.428 ethnic Jamaican HbVar.428 ethnic Canadian HbVar.428 phenoCommon Hemoglobin variant HbVar.429 protEffect HBB 93(F8) His>Arg HbVar.429 commonName Hb Mozhaisk HbVar.429 ethnic Russian HbVar.429 phenoCommon Hemoglobin variant HbVar.430 protEffect HBB 93(F8) His>Tyr HbVar.430 commonName Hb M-Milwaukee-2 HbVar.430 alias Hb M-Hyde Park HbVar.430 alias Hb M-Akita HbVar.430 ethnic Swiss HbVar.430 ethnic Black HbVar.430 ethnic Japanese HbVar.430 ethnic Yugoslavian HbVar.430 ethnic Norwegian HbVar.430 ethnic German HbVar.430 phenoCommon Hemoglobin variant HbVar.431 protEffect HBB 93(F8) His>Pro HbVar.431 commonName Hb Newcastle HbVar.431 ethnic English HbVar.431 ethnic Russian HbVar.431 phenoCommon Hemoglobin variant HbVar.432 protEffect HBB 93(F8) His>Gln HbVar.432 commonName Hb Saint Etienne HbVar.432 alias Hb Istanbul HbVar.432 ethnic Argentine HbVar.432 ethnic French HbVar.432 ethnic Turkish HbVar.432 phenoCommon Hemoglobin variant HbVar.433 protEffect HBB 93(F8) His>Asp HbVar.433 commonName Hb J-Altgeld Gardens HbVar.433 ethnic Black HbVar.433 phenoCommon Hemoglobin variant HbVar.434 protEffect HBB 93(F8) His>Asn HbVar.434 commonName Hb Redondo HbVar.434 alias Hb Isehara HbVar.434 ethnic Japanese HbVar.434 ethnic Portuguese HbVar.434 phenoCommon Hemoglobin variant HbVar.435 protEffect HBB 94(F9) Cys>Arg HbVar.435 commonName Hb Okazaki HbVar.435 ethnic Japanese HbVar.435 phenoCommon Hemoglobin variant HbVar.436 protEffect HBB 95(FG1) Asp>His HbVar.436 commonName Hb Barcelona HbVar.436 ethnic Spanish HbVar.436 phenoCommon Hemoglobin variant HbVar.437 protEffect HBB 95(FG1) Asp>Asn HbVar.437 commonName Hb Bunbury HbVar.437 ethnic Italian HbVar.437 ethnic Caucasian HbVar.437 ethnic Mexican HbVar.437 ethnic American HbVar.437 phenoCommon Hemoglobin variant HbVar.438 protEffect HBB 95(FG1) Asp>Gly HbVar.438 commonName Hb Chandigarh HbVar.438 ethnic Indian HbVar.438 phenoCommon Hemoglobin variant HbVar.439 protEffect HBB 96(FG2) Lys>Glu HbVar.439 commonName Hb N-Baltimore HbVar.439 alias Hb Hopkins-I HbVar.439 alias Hb Jenkins HbVar.439 alias Hb N-Memphis HbVar.439 alias Hb Kenwood HbVar.439 ethnic Black HbVar.439 phenoCommon Hemoglobin variant HbVar.440 protEffect HBB 96(FG2) Lys>Met HbVar.440 commonName Hb J-Cordoba HbVar.440 ethnic Argentine HbVar.440 phenoCommon Hemoglobin variant HbVar.441 protEffect HBB 96(FG2) Lys>Asn HbVar.441 commonName Hb Detroit HbVar.441 ethnic Indian HbVar.441 phenoCommon Hemoglobin variant HbVar.442 protEffect HBB 97(FG3) Leu>Val HbVar.442 commonName Hb Regina HbVar.442 ethnic Scandinavian HbVar.442 phenoCommon Hemoglobin variant HbVar.443 protEffect HBB 97(FG3) Leu>Pro HbVar.443 commonName Hb Debrousse HbVar.443 ethnic Italian HbVar.443 ethnic French HbVar.443 phenoCommon Hemoglobin variant HbVar.444 protEffect HBB 98(FG4) His>Gln HbVar.444 commonName Hb Malmo HbVar.444 ethnic Swedish HbVar.444 ethnic Dutch HbVar.444 ethnic German HbVar.444 ethnic English HbVar.444 ethnic American HbVar.444 phenoCommon Hemoglobin variant HbVar.445 protEffect HBB 98(FG4) His>Leu HbVar.445 commonName Hb Wood HbVar.445 ethnic Swedish HbVar.445 ethnic Norwegian HbVar.445 phenoCommon Hemoglobin variant HbVar.446 protEffect HBB 98(FG4) His>Pro HbVar.446 commonName Hb Nagoya HbVar.446 ethnic Japanese HbVar.446 phenoCommon Hemoglobin variant HbVar.447 protEffect HBB 98(FG4) His>Tyr HbVar.447 commonName Hb Moriguchi HbVar.447 ethnic Japanese HbVar.447 phenoCommon Hemoglobin variant HbVar.448 protEffect HBB 99(FG5) Val>Met HbVar.448 commonName Hb Koln HbVar.448 alias Hb San Francisco (Pacific) HbVar.448 alias Hb Ube-1 HbVar.448 phenoCommon Hemoglobin variant HbVar.449 protEffect HBB 99(FG5) Val>Gly HbVar.449 commonName Hb Nottingham HbVar.449 ethnic English HbVar.449 ethnic Caucasian HbVar.449 ethnic Canadian HbVar.449 ethnic Japanese HbVar.449 phenoCommon Hemoglobin variant HbVar.450 protEffect HBB 99(FG5) Val>Ala HbVar.450 commonName Hb Djelfa HbVar.450 ethnic Caucasian HbVar.450 phenoCommon Hemoglobin variant HbVar.451 protEffect HBB 99(FG5) Val>Glu HbVar.451 commonName Hb Mainz HbVar.451 ethnic German HbVar.451 phenoCommon Hemoglobin variant HbVar.452 protEffect HBB 100(G1) Asp>Asn HbVar.452 commonName Hb Kempsey HbVar.452 ethnic Irish HbVar.452 ethnic French HbVar.452 ethnic Black HbVar.452 phenoCommon Hemoglobin variant HbVar.453 protEffect HBB 100(G1) Asp>His HbVar.453 commonName Hb Yakima HbVar.453 ethnic Caucasian HbVar.453 phenoCommon Hemoglobin variant HbVar.454 protEffect HBB 100(G1) Asp>Ala HbVar.454 commonName Hb Radcliffe HbVar.454 ethnic English HbVar.454 phenoCommon Hemoglobin variant HbVar.455 protEffect HBB 100(G1) Asp>Tyr HbVar.455 commonName Hb Ypsilanti (or Hb Ypsi) HbVar.455 ethnic Black HbVar.455 phenoCommon Hemoglobin variant HbVar.456 protEffect HBB 100(G1) Asp>Gly HbVar.456 commonName Hb Hotel-Dieu HbVar.456 ethnic Puerto Rican HbVar.456 ethnic French Caucasian HbVar.456 phenoCommon Hemoglobin variant HbVar.457 protEffect HBB 100(G1) Asp>Val HbVar.457 commonName Hb Chemilly HbVar.457 ethnic French Caucasian HbVar.457 phenoCommon Hemoglobin variant HbVar.458 protEffect HBB 100(G1) Asp>Glu HbVar.458 commonName Hb Coimbra HbVar.458 alias Hb Ingelheim HbVar.458 ethnic German HbVar.458 ethnic American HbVar.458 ethnic Portuguese HbVar.458 phenoCommon Hemoglobin variant HbVar.459 protEffect HBB 101(G2) Pro>Leu HbVar.459 commonName Hb Brigham HbVar.459 phenoCommon Hemoglobin variant HbVar.460 protEffect HBB 101(G2) Pro>Arg HbVar.460 commonName Hb New Mexico HbVar.460 ethnic Black HbVar.460 phenoCommon Hemoglobin variant HbVar.461 protEffect HBB 102(G3) Glu>Lys HbVar.461 commonName Hb British Columbia HbVar.461 ethnic East Indian HbVar.461 ethnic Caucasian HbVar.461 phenoCommon Hemoglobin variant HbVar.462 protEffect HBB 102(G3) Glu>Gln HbVar.462 commonName Hb Rush HbVar.462 ethnic Black HbVar.462 phenoCommon Hemoglobin variant HbVar.463 protEffect HBB 102(G3) Glu>Gly HbVar.463 commonName Hb Alberta HbVar.463 ethnic Caucasian HbVar.463 phenoCommon Hemoglobin variant HbVar.464 protEffect HBB 102(G3) Glu>Asp HbVar.464 commonName Hb Potomac HbVar.464 ethnic Caucasian HbVar.464 phenoCommon Hemoglobin variant HbVar.465 protEffect HBB 103(G4) Asn>Lys HbVar.465 commonName Hb Richmond HbVar.465 ethnic Black HbVar.465 phenoCommon Hemoglobin variant HbVar.466 protEffect HBB 103(G4) Asn>Thr HbVar.466 commonName Hb Kansas HbVar.466 ethnic Caucasian HbVar.466 ethnic Japanese HbVar.466 phenoCommon Hemoglobin variant HbVar.467 protEffect HBB 103(G4) Asn>Ser HbVar.467 commonName Hb Beth Israel HbVar.467 ethnic Italian HbVar.467 ethnic Yugoslavian HbVar.467 phenoCommon Hemoglobin variant HbVar.468 protEffect HBB 103(G4) Asn>Tyr HbVar.468 commonName Hb Saint Mande HbVar.468 ethnic French HbVar.468 phenoCommon Hemoglobin variant HbVar.469 protEffect HBB 104(G5) Phe>Leu HbVar.469 commonName Hb Heathrow HbVar.469 ethnic English HbVar.469 ethnic Australian HbVar.469 phenoCommon Hemoglobin variant HbVar.470 protEffect HBB 104(G5) Phe>Ile HbVar.470 commonName Hb Saint Nazaire HbVar.470 ethnic French HbVar.470 phenoCommon Hemoglobin variant HbVar.471 protEffect HBB 105(G6) Arg>Ser HbVar.471 commonName Hb Camperdown HbVar.471 ethnic Maltese HbVar.471 phenoCommon Hemoglobin variant HbVar.472 protEffect HBB 105(G6) Arg>Thr HbVar.472 commonName Hb Sherwood Forest HbVar.472 ethnic Kashmiri Muslim HbVar.472 phenoCommon Hemoglobin variant HbVar.473 protEffect HBB 105(G6) Arg>Lys HbVar.473 commonName Hb Alzette HbVar.473 ethnic Luxembourg HbVar.473 phenoCommon Hemoglobin variant HbVar.474 protEffect HBB 106(G7) Leu>Phe HbVar.474 commonName Hb South Milwaukee HbVar.474 ethnic English HbVar.474 phenoCommon Hemoglobin variant HbVar.475 protEffect HBB 107(G8) Leu>Pro HbVar.475 commonName Hb Southampton HbVar.475 alias Hb Casper HbVar.475 ethnic Argentine HbVar.475 ethnic Caucasian HbVar.475 ethnic English HbVar.475 phenoCommon Hemoglobin variant HbVar.476 protEffect HBB 107(G8) Leu>Gln HbVar.476 commonName Hb Tubingen HbVar.476 ethnic German HbVar.476 ethnic Belgian HbVar.476 phenoCommon Hemoglobin variant HbVar.477 protEffect HBB 107(G8) Leu>Arg HbVar.477 commonName Hb Terre Haute HbVar.477 phenoCommon Hemoglobin variant HbVar.478 protEffect HBB 108(G9) Gly>Arg HbVar.478 commonName Hb Burke HbVar.478 ethnic Caucasian HbVar.478 ethnic Japanese HbVar.478 phenoCommon Hemoglobin variant HbVar.479 protEffect HBB 108(G9) Gly>Asp HbVar.479 commonName Hb Lulu Island HbVar.479 ethnic East Indian HbVar.479 phenoCommon Hemoglobin variant HbVar.480 protEffect HBB 109(G10) Asn>Asp HbVar.480 commonName Hb Yoshizuka HbVar.480 ethnic Japanese HbVar.480 phenoCommon Hemoglobin variant HbVar.481 protEffect HBB 109(G10) Asn>Lys HbVar.481 commonName Hb Presbyterian HbVar.481 ethnic American HbVar.481 ethnic German HbVar.481 ethnic Spanish HbVar.481 phenoCommon Hemoglobin variant HbVar.482 protEffect HBB 109(G10) Asn>His HbVar.482 commonName Hb Shizuoka HbVar.482 ethnic Japanese HbVar.482 phenoCommon Hemoglobin variant HbVar.483 protEffect HBB 110(G11) Val>Met HbVar.483 commonName Hb San Diego HbVar.483 ethnic Philippine HbVar.483 ethnic Anglo-Saxon HbVar.483 ethnic Japanese HbVar.483 ethnic West Indian HbVar.483 ethnic Caucasian HbVar.483 phenoCommon Hemoglobin variant HbVar.484 protEffect HBB 110(G11) Val>Leu HbVar.484 commonName Hb Johnstown HbVar.484 ethnic Caucasian HbVar.484 ethnic Spanish HbVar.484 phenoCommon Hemoglobin variant HbVar.485 protEffect HBB 111(G12) Leu>Pro HbVar.485 commonName Hb Showa-Yakushiji HbVar.485 alias Codon 110 (T->C); CTG(Leu)->CCG(Pro) beta+ HbVar.485 ethnic United Arab Emirates HbVar.485 ethnic Japanese HbVar.485 phenoCommon beta+ thalassemia HbVar.486 protEffect HBB 112(G13) Val>Phe HbVar.486 commonName Hb Peterborough HbVar.486 ethnic Italian HbVar.486 phenoCommon Hemoglobin variant HbVar.487 protEffect HBB 112(G13) Val>Ala HbVar.487 commonName Hb Stanmore HbVar.487 ethnic Japanese HbVar.487 ethnic Italian HbVar.487 phenoCommon Hemoglobin variant HbVar.488 protEffect HBB 113(G14) Cys>Arg HbVar.488 commonName Hb Indianapolis HbVar.488 ethnic Spanish HbVar.488 phenoCommon Hemoglobin variant HbVar.489 protEffect HBB 113(G14) Cys>Tyr HbVar.489 commonName Hb Yahata HbVar.489 ethnic Japanese HbVar.489 phenoCommon Hemoglobin variant HbVar.490 protEffect HBB 113(G14) Cys>Trp HbVar.490 commonName Hb Toranomon HbVar.490 ethnic Japanese HbVar.490 phenoCommon Hemoglobin variant HbVar.491 protEffect HBB 114(G15) Val>Glu HbVar.491 commonName Hb New York HbVar.491 alias Hb Kaohsiung HbVar.491 ethnic American HbVar.491 ethnic Chinese HbVar.491 phenoCommon Hemoglobin variant HbVar.492 protEffect HBB 115(G16) Leu>Met HbVar.492 commonName Hb Zengcheng HbVar.492 ethnic Chinese HbVar.492 phenoCommon Hemoglobin variant HbVar.493 protEffect HBB 115(G16) Leu>Pro HbVar.493 commonName Hb Durham-N.C. HbVar.493 alias Codon 114 (T->C); CTG(Leu)->CCG(Pro) beta0 HbVar.493 alias Hb Brescia HbVar.493 ethnic Russian HbVar.493 ethnic Irish HbVar.493 ethnic Italian HbVar.493 phenoCommon Thalassemia HbVar.494 protEffect HBB 116(G17) Ala>Pro HbVar.494 commonName Hb Madrid HbVar.494 ethnic Black HbVar.494 ethnic Korean HbVar.494 ethnic Spanish HbVar.494 phenoCommon Hemoglobin variant HbVar.495 protEffect HBB 116(G17) Ala>Asp HbVar.495 commonName Hb Hradec Kralove (or Hb HK) HbVar.495 alias Codon 115 (C->A); GCC(Ala)->GAC(Asp) beta+ (dominant beta-thal trait) HbVar.495 ethnic Czech HbVar.495 phenoCommon beta+ thalassemia HbVar.496 protEffect HBB 117(G18) His>Gln HbVar.496 commonName Hb Hafnia HbVar.496 ethnic Danish HbVar.496 phenoCommon Hemoglobin variant HbVar.497 protEffect HBB 118(G19) His>Arg HbVar.497 commonName Hb P-Galveston HbVar.497 ethnic Black HbVar.497 phenoCommon Hemoglobin variant HbVar.498 protEffect HBB 118(G19) His>Pro HbVar.498 commonName Hb Saitama HbVar.498 ethnic Japanese HbVar.498 phenoCommon Hemoglobin variant HbVar.499 protEffect HBB 118(G19) His>Tyr HbVar.499 commonName Hb Tsukumi HbVar.499 ethnic Japanese HbVar.499 ethnic Moroccan HbVar.499 phenoCommon Hemoglobin variant HbVar.500 protEffect HBB 118(G19) His>Asn HbVar.500 commonName Hb Brent HbVar.500 ethnic Bosnian HbVar.500 phenoCommon Hemoglobin variant HbVar.501 protEffect HBB 119(GH1) Phe>Tyr HbVar.501 commonName Hb Minneapolis-Laos HbVar.501 ethnic Laotian HbVar.501 ethnic Cambodian HbVar.501 phenoCommon Hemoglobin variant HbVar.502 protEffect HBB 112(G13) Val>Leu AND HBB 120(GH2) Gly>Asp HbVar.502 commonName Hb Fannin-Lubbock II HbVar.502 ethnic Mexican HbVar.502 ethnic American HbVar.502 ethnic Spanish HbVar.502 phenoCommon Hemoglobin variant HbVar.503 protEffect HBB 120(GH2) Gly>Val HbVar.503 commonName Hb Bougardirey-Mali HbVar.503 ethnic African HbVar.503 phenoCommon Hemoglobin variant HbVar.504 protEffect HBB 120(GH2) Gly>Ala HbVar.504 commonName Hb Iowa HbVar.504 phenoCommon Hemoglobin variant HbVar.505 protEffect HBB 121(GH3) Lys>Glu HbVar.505 commonName Hb Hijiyama HbVar.505 ethnic Japanese HbVar.505 ethnic Finnish HbVar.505 phenoCommon Hemoglobin variant HbVar.506 protEffect HBB 121(GH3) Lys>Asn HbVar.506 commonName Hb Riyadh HbVar.506 alias Hb Karatsu HbVar.506 ethnic Saudi Arabian HbVar.506 ethnic Mexican HbVar.506 ethnic Spanish HbVar.506 ethnic Asian Indian HbVar.506 ethnic Japanese HbVar.506 phenoCommon Hemoglobin variant HbVar.507 protEffect HBB 121(GH3) Lys>Gln HbVar.507 commonName Hb Takamatsu HbVar.507 ethnic Japanese HbVar.507 phenoCommon Hemoglobin variant HbVar.508 protEffect HBB 121(GH3) Lys>Ile HbVar.508 commonName Hb Jianghua HbVar.508 ethnic Chinese HbVar.508 phenoCommon Hemoglobin variant HbVar.509 protEffect HBB 122(GH4) Glu>Gln HbVar.509 commonName Hb D-Los Angeles HbVar.509 alias Hb D-Punjab HbVar.509 alias Hb D-North Carolina HbVar.509 alias Hb D-Portugal HbVar.509 alias Hb Oak Ridge HbVar.509 alias Hb D-Chicago HbVar.509 ethnic Chinese HbVar.509 ethnic Australian HbVar.509 ethnic Dutch HbVar.509 ethnic English HbVar.509 ethnic Greek HbVar.509 ethnic Northwestern Indian HbVar.509 ethnic Pakistani HbVar.509 ethnic Turkish HbVar.509 ethnic Yugoslavian HbVar.509 phenoCommon Hemoglobin variant HbVar.509 phenoCommon Normal HbVar.510 protEffect HBB 122(GH4) Glu>Lys HbVar.510 commonName Hb O-Arab HbVar.510 alias Hb Egypt HbVar.510 alias Hb O-Thrace HbVar.510 ethnic Arabian HbVar.510 ethnic Egyptian HbVar.510 ethnic African-American HbVar.510 ethnic Gypsy HbVar.510 ethnic Pomak HbVar.510 phenoCommon Hemoglobin variant HbVar.510 phenoCommon Microcytosis HbVar.510 phenoCommon mild Anemia HbVar.511 protEffect HBB 122(GH4) Glu>Gly HbVar.511 commonName Hb St. Francis HbVar.511 ethnic Caucasian HbVar.511 phenoCommon Hemoglobin variant HbVar.512 protEffect HBB 122(GH4) Glu>Val HbVar.512 commonName Hb Beograd HbVar.512 alias Hb D-Camperdown HbVar.512 ethnic Yugoslavian HbVar.512 ethnic Turkish HbVar.512 phenoCommon Hemoglobin variant HbVar.513 protEffect HBB 122(GH4) Glu>Ala HbVar.513 commonName Hb D-Neath HbVar.513 ethnic Caucasian HbVar.513 phenoCommon Hemoglobin variant HbVar.514 protEffect HBB 124(H1) Thr>Ile HbVar.514 commonName Hb Villejuif HbVar.514 ethnic French HbVar.514 phenoCommon Hemoglobin variant HbVar.515 protEffect HBB 125(H2) Pro>Arg HbVar.515 commonName Hb Khartoum HbVar.515 ethnic Khartoum HbVar.515 phenoCommon Hemoglobin variant HbVar.516 protEffect HBB 125(H2) Pro>Gln HbVar.516 commonName Hb Ty Gard HbVar.516 ethnic French HbVar.516 phenoCommon Hemoglobin variant HbVar.517 protEffect HBB 125(H2) Pro>Ser HbVar.517 commonName Hb Tunis HbVar.517 ethnic Tunisian HbVar.517 phenoCommon Hemoglobin variant HbVar.518 protEffect HBB 125(H2) Pro>Leu HbVar.518 commonName Hb Tende HbVar.518 ethnic French HbVar.518 phenoCommon Hemoglobin variant HbVar.519 protEffect HBB 127(H4) Val>Glu HbVar.519 commonName Hb Hofu HbVar.519 ethnic Japanese HbVar.519 ethnic Indian HbVar.519 ethnic Black HbVar.519 ethnic Spanish HbVar.519 phenoCommon Hemoglobin variant HbVar.520 protEffect HBB 127(H4) Val>Ala HbVar.520 commonName Hb Beirut HbVar.520 ethnic Lebanese HbVar.520 phenoCommon Hemoglobin variant HbVar.521 protEffect HBB 127(H4) Val>Gly HbVar.521 commonName Hb Dhonburi HbVar.521 alias Hb Neapolis HbVar.521 alias Codon 126 (T->G); GTG(Val)->GGG(Gly) Mild beta-thal trait HbVar.521 ethnic Thai HbVar.521 ethnic Italian HbVar.521 ethnic German HbVar.521 phenoCommon beta0 thalassemia HbVar.522 protEffect HBB 128(H5) Gln>Glu HbVar.522 commonName Hb Complutense HbVar.522 ethnic Spanish HbVar.522 phenoCommon Hemoglobin variant HbVar.523 protEffect HBB 128(H5) Gln>Lys HbVar.523 commonName Hb Brest HbVar.523 ethnic French HbVar.523 phenoCommon Hemoglobin variant HbVar.524 protEffect HBB 128(H5) Gln>Arg HbVar.524 commonName Hb Dieppe HbVar.524 ethnic French HbVar.524 phenoCommon Hemoglobin variant HbVar.525 protEffect HBB 129(H6) Ala>Asp HbVar.525 commonName Hb J-Guantanamo HbVar.525 ethnic Cuban HbVar.525 ethnic Chinese HbVar.525 ethnic Japanese HbVar.525 ethnic Chilean HbVar.525 ethnic Benin HbVar.525 phenoCommon Hemoglobin variant HbVar.526 protEffect HBB 129(H6) Ala>Pro HbVar.526 commonName Hb Mont Saint Aignan HbVar.526 ethnic French Caucasian HbVar.526 phenoCommon Hemoglobin variant HbVar.527 protEffect HBB 129(H6) Ala>Val HbVar.527 commonName Hb Sitia HbVar.527 ethnic Greek HbVar.527 phenoCommon Hemoglobin variant HbVar.528 protEffect HBB 130(H7) Ala>Asp HbVar.528 commonName Hb J-Taichung HbVar.528 ethnic Chinese HbVar.528 phenoCommon Hemoglobin variant HbVar.529 protEffect HBB 130(H7) Ala>Asp OR HBB 130(H7) Ala>Glu HbVar.529 commonName Hb K-Cameroon HbVar.529 ethnic Cameroonian HbVar.529 phenoCommon Hemoglobin variant HbVar.530 protEffect HBB 130(H7) Ala>Pro HbVar.530 commonName Hb Crete HbVar.530 ethnic Greek HbVar.530 phenoCommon Hemoglobin variant HbVar.531 protEffect HBB 130(H7) Ala>Val HbVar.531 commonName Hb La Desirade HbVar.531 ethnic Black HbVar.531 phenoCommon Hemoglobin variant HbVar.532 protEffect HBB 131(H8) Tyr>Asp HbVar.532 commonName Hb Wien HbVar.532 ethnic Australian HbVar.532 ethnic German HbVar.532 phenoCommon Hemoglobin variant HbVar.533 protEffect HBB 131(H8) Tyr>Ser HbVar.533 commonName Hb Nevers HbVar.533 ethnic French Caucasian HbVar.533 phenoCommon Hemoglobin variant HbVar.534 protEffect HBB 131(H8) Tyr>Cys HbVar.534 commonName Hb Montfermeil HbVar.534 ethnic Portuguese HbVar.534 ethnic Hungarian HbVar.534 ethnic Gypsy HbVar.534 phenoCommon Hemoglobin variant HbVar.535 protEffect HBB 132(H9) Gln>Glu HbVar.535 commonName Hb Camden HbVar.535 alias Hb Tokuchi HbVar.535 alias Hb Motown HbVar.535 ethnic Black HbVar.535 ethnic Japanese HbVar.535 phenoCommon Hemoglobin variant HbVar.536 protEffect HBB 132(H9) Gln>Lys HbVar.536 commonName Hb Shelby HbVar.536 ethnic Black HbVar.536 phenoCommon Hemoglobin variant HbVar.537 protEffect HBB 132(H9) Gln>Pro HbVar.537 commonName Hb Shanghai HbVar.537 ethnic Chinese HbVar.537 phenoCommon Hemoglobin variant HbVar.538 protEffect HBB 132(H9) Gln>Arg HbVar.538 commonName Hb Sarrebourg HbVar.538 ethnic Turkish HbVar.538 phenoCommon Hemoglobin variant HbVar.539 protEffect HBB 132(H9) Gln>His HbVar.539 commonName Hb Silver Springs HbVar.539 ethnic African-American HbVar.539 phenoCommon Hemoglobin variant HbVar.540 protEffect HBB 133(H10) Lys>Gln HbVar.540 commonName Hb K-Woolwich HbVar.540 ethnic Black HbVar.540 phenoCommon Hemoglobin variant HbVar.540 phenoCommon Normal HbVar.541 protEffect HBB 133(H10) Lys>Asn HbVar.541 commonName Hb Yamagata HbVar.541 ethnic Japanese HbVar.541 phenoCommon Hemoglobin variant HbVar.542 protEffect HBB 133(H10) Lys>Thr HbVar.542 commonName Hb Cook HbVar.542 ethnic Thai HbVar.542 phenoCommon Hemoglobin variant HbVar.543 protEffect HBB 133(H10) Lys>Glu HbVar.543 commonName Hb Takasago HbVar.543 ethnic Japanese HbVar.543 phenoCommon Hemoglobin variant HbVar.544 protEffect HBB 134(H11) Val>Leu AND HBB 65(E8) Gly>Ser HbVar.544 commonName Hb Extremadura HbVar.544 ethnic Spanish HbVar.544 phenoCommon Hemoglobin variant HbVar.545 protEffect HBB 135(H12) Val>Glu HbVar.545 commonName Hb North Shore HbVar.545 alias Hb North Shore-Caracas HbVar.545 ethnic English HbVar.545 ethnic Venezuelan HbVar.545 ethnic Anglo-Celtic HbVar.545 phenoCommon Hemoglobin variant HbVar.546 protEffect HBB 136(H13) Ala>Pro HbVar.546 commonName Hb Altdorf HbVar.546 ethnic Italian HbVar.546 phenoCommon Hemoglobin variant HbVar.547 protEffect HBB 136(H13) Ala>Asp HbVar.547 commonName Hb Beckman HbVar.547 ethnic Black HbVar.547 phenoCommon Hemoglobin variant HbVar.548 protEffect HBB 137(H14) Gly>Asp HbVar.548 commonName Hb Hope HbVar.548 ethnic Black HbVar.548 ethnic Cuban HbVar.548 ethnic Japanese HbVar.548 ethnic Laotian HbVar.548 ethnic Thai HbVar.548 phenoCommon Hemoglobin variant HbVar.549 protEffect HBB 137(H14) Gly>Ala HbVar.549 commonName Hb Petit Bourg HbVar.549 ethnic English HbVar.549 ethnic French West Indies HbVar.549 phenoCommon Hemoglobin variant HbVar.550 protEffect HBB 137(H14) Gly>Ser HbVar.550 commonName Hb Perpignan HbVar.550 ethnic French Caucasian HbVar.550 phenoCommon Hemoglobin variant HbVar.551 protEffect HBB 139(H16) Ala>Pro HbVar.551 commonName Hb Brockton HbVar.551 ethnic Caucasian HbVar.551 ethnic Turkish HbVar.551 ethnic Chinese HbVar.551 phenoCommon Hemoglobin variant HbVar.552 protEffect HBB 140(H17) Asn>Asp HbVar.552 commonName Hb Geelong HbVar.552 ethnic Polish HbVar.552 ethnic Russian HbVar.552 ethnic Thai HbVar.552 ethnic Tatar HbVar.552 phenoCommon Hemoglobin variant HbVar.553 protEffect HBB 140(H17) Asn>Lys HbVar.553 commonName Hb Hinsdale HbVar.553 phenoCommon Hemoglobin variant HbVar.554 protEffect HBB 140(H17) Asn>Tyr HbVar.554 commonName Hb Aurora HbVar.554 ethnic Dutch HbVar.554 phenoCommon Hemoglobin variant HbVar.555 protEffect HBB 141(H18) Ala>Thr HbVar.555 commonName Hb Saint-Jacques HbVar.555 ethnic Caucasian HbVar.555 phenoCommon Hemoglobin variant HbVar.556 protEffect HBB 141(H18) Ala>Asp HbVar.556 commonName Hb Himeji HbVar.556 ethnic Japanese HbVar.556 ethnic Portuguese HbVar.556 phenoCommon Hemoglobin variant HbVar.557 protEffect HBB 141(H18) Ala>Val HbVar.557 commonName Hb Puttelange HbVar.557 ethnic French HbVar.557 phenoCommon Hemoglobin variant HbVar.558 protEffect HBB 142(H19) Leu>Arg HbVar.558 commonName Hb Olmsted HbVar.558 ethnic French HbVar.558 ethnic Caucasian HbVar.558 phenoCommon Hemoglobin variant HbVar.559 protEffect HBB 143(H20) Ala>Asp HbVar.559 commonName Hb Ohio HbVar.559 ethnic Scottish HbVar.559 ethnic English HbVar.559 phenoCommon Hemoglobin variant HbVar.560 protEffect HBB 143(H20) Ala>Pro HbVar.560 commonName Hb Toyoake HbVar.560 ethnic Japanese HbVar.560 phenoCommon Hemoglobin variant HbVar.561 protEffect HBB 144(H21) His>Asn HbVar.561 commonName Hb Sapporo HbVar.561 ethnic Japanese HbVar.561 phenoCommon Hemoglobin variant HbVar.562 protEffect HBB 144(H21) His>Arg HbVar.562 commonName Hb Abruzzo HbVar.562 ethnic Italian HbVar.562 ethnic American HbVar.562 phenoCommon Hemoglobin variant HbVar.563 protEffect HBB 144(H21) His>Gln HbVar.563 commonName Hb Little Rock HbVar.563 ethnic American HbVar.563 phenoCommon Hemoglobin variant HbVar.564 protEffect HBB 144(H21) His>Pro HbVar.564 commonName Hb Syracuse HbVar.564 ethnic Caucasian HbVar.564 ethnic Japanese HbVar.564 phenoCommon Hemoglobin variant HbVar.565 protEffect HBB 144(H21) His>Asp HbVar.565 commonName Hb Rancho Mirage HbVar.565 phenoCommon Hemoglobin variant HbVar.566 protEffect HBB 144(H21) His>Tyr HbVar.566 commonName Hb Old Dominion/Burton-upon-Trent (OD/BuT) HbVar.566 ethnic Scottish HbVar.566 ethnic Irish HbVar.566 phenoCommon Hemoglobin variant HbVar.567 protEffect HBB 145(HC1) Lys>Asn HbVar.567 commonName Hb Andrew-Minneapolis HbVar.567 ethnic Bulgarian HbVar.567 ethnic German HbVar.567 ethnic Spanish HbVar.567 phenoCommon Hemoglobin variant HbVar.568 protEffect HBB 145(HC1) Lys>Glu HbVar.568 commonName Hb Mito HbVar.568 ethnic Japanese HbVar.568 phenoCommon Hemoglobin variant HbVar.569 protEffect HBB 145(HC1) Lys>Met HbVar.569 commonName Hb Barbizon HbVar.569 ethnic French Caucasian HbVar.569 phenoCommon Hemoglobin variant HbVar.570 protEffect HBB 146(HC2) Tyr>His HbVar.570 commonName Hb Bethesda HbVar.570 ethnic Chinese HbVar.570 ethnic Canadian HbVar.570 ethnic Caucasian HbVar.570 phenoCommon Hemoglobin variant HbVar.571 protEffect HBB 146(HC2) Tyr>Cys HbVar.571 commonName Hb Rainier HbVar.571 ethnic Caucasian HbVar.571 ethnic French HbVar.571 ethnic Greek HbVar.571 ethnic Italian HbVar.571 phenoCommon Hemoglobin variant HbVar.572 protEffect HBB 146(HC2) Tyr>Asn HbVar.572 commonName Hb Osler HbVar.572 alias Hb Fort Gordon HbVar.572 ethnic Black HbVar.572 phenoCommon Hemoglobin variant HbVar.573 protEffect HBB 146(HC2) Tyr>Asp HbVar.573 commonName Hb Nancy HbVar.573 ethnic French HbVar.573 phenoCommon Hemoglobin variant HbVar.574 protEffect HBB 146(HC2) Tyr-His->0 HbVar.574 commonName Hb McKees Rocks HbVar.574 ethnic Caucasian HbVar.574 phenoCommon Hemoglobin variant HbVar.575 protEffect HBB 147(HC3) His>Asp HbVar.575 commonName Hb Hiroshima HbVar.575 ethnic Japanese HbVar.575 phenoCommon Hemoglobin variant HbVar.576 protEffect HBB 147(HC3) His>Pro HbVar.576 commonName Hb York HbVar.576 ethnic Caucasian HbVar.576 phenoCommon Hemoglobin variant HbVar.577 protEffect HBB 147(HC3) His>Arg HbVar.577 commonName Hb Cochin-Port Royal HbVar.577 ethnic French HbVar.577 phenoCommon Hemoglobin variant HbVar.578 protEffect HBB 147(HC3) His>Leu HbVar.578 commonName Hb Cowtown HbVar.578 ethnic Caucasian HbVar.578 phenoCommon Hemoglobin variant HbVar.579 protEffect HBB 147(HC3) His>Gln HbVar.579 commonName Hb Kodaira HbVar.579 ethnic Japanese HbVar.579 phenoCommon Hemoglobin variant HbVar.580 protEffect HBG2 2(NA1) Gly>Cys HbVar.580 commonName Hb F-Malaysia HbVar.580 ethnic Chinese HbVar.580 phenoCommon Hemoglobin variant HbVar.581 protEffect HBG2 6(A2) Glu>Gly HbVar.581 commonName Hb F-Meinohama HbVar.581 ethnic Japanese HbVar.581 phenoCommon Hemoglobin variant HbVar.582 protEffect HBG2 8(A4) Asp>Asn HbVar.582 commonName Hb F-Auckland HbVar.582 ethnic American HbVar.582 ethnic New Zealand HbVar.582 phenoCommon Hemoglobin variant HbVar.583 protEffect HBG2 9(A5) Lys>Gln OR HBG2 9(A5) Lys>Glu HbVar.583 commonName Hb F-Albaicin HbVar.583 ethnic Spanish HbVar.583 phenoCommon Hemoglobin variant HbVar.584 protEffect HBG2 13(A9) Thr>Arg HbVar.584 commonName Hb F-Heather HbVar.584 phenoCommon Hemoglobin variant HbVar.585 protEffect HBG2 16(A12) Trp>Arg HbVar.585 commonName Hb F-Catalonia HbVar.585 ethnic Spanish HbVar.585 phenoCommon Hemoglobin variant HbVar.586 protEffect HBG2 17(A13) Gly>Arg HbVar.586 commonName Hb F-Melbourne HbVar.586 ethnic Spanish HbVar.586 phenoCommon Hemoglobin variant HbVar.587 protEffect HBG2 22(B3) Glu>Gln HbVar.587 commonName Hb F-Fuchu HbVar.587 ethnic Japanese HbVar.587 phenoCommon Hemoglobin variant HbVar.588 protEffect HBG2 22(B3) Glu>Lys HbVar.588 commonName Hb F-Saskatoon HbVar.588 ethnic American Indian HbVar.588 phenoCommon Hemoglobin variant HbVar.589 protEffect HBG2 23(B4) Asp>Gly HbVar.589 commonName Hb F-Urumqi HbVar.589 ethnic Chinese HbVar.589 phenoCommon Hemoglobin variant HbVar.590 protEffect HBG2 23(B4) Asp>Val HbVar.590 commonName Hb F-Granada HbVar.590 ethnic Spanish HbVar.590 phenoCommon Hemoglobin variant HbVar.591 protEffect HBG2 26(B7) Gly>Glu HbVar.591 commonName Hb F-Cosenza HbVar.591 ethnic Italian HbVar.591 phenoCommon Hemoglobin variant HbVar.592 protEffect HBG2 27(B8) Glu>Lys HbVar.592 commonName Hb F-Oakland HbVar.592 ethnic Chinese HbVar.592 ethnic Black HbVar.592 phenoCommon Hemoglobin variant HbVar.593 protEffect HBG2 35(B16) Val>Ile HbVar.593 commonName Hb F-Tokyo HbVar.593 ethnic Japanese HbVar.593 phenoCommon Hemoglobin variant HbVar.594 protEffect HBG2 41(C6) Arg>Lys HbVar.594 commonName Hb F-Austell HbVar.594 ethnic Black HbVar.594 phenoCommon Hemoglobin variant HbVar.595 protEffect HBG2 41(C6) Arg>Gly HbVar.595 commonName Hb F-Veleta HbVar.595 ethnic Spanish HbVar.595 phenoCommon Hemoglobin variant HbVar.596 protEffect HBG2 42(C7) Phe>Ser HbVar.596 commonName Hb F-Cincinnati HbVar.596 ethnic Caucasian HbVar.596 phenoCommon Hemoglobin variant HbVar.597 protEffect HBG2 45(CD3) Ser>Arg HbVar.597 commonName Hb F-Lodz HbVar.597 ethnic Polish HbVar.597 phenoCommon Hemoglobin variant HbVar.598 protEffect HBG2 56(D6) Met>Arg HbVar.598 commonName Hb F-Kingston HbVar.598 ethnic Jamaican HbVar.598 ethnic Spanish HbVar.598 phenoCommon Hemoglobin variant HbVar.599 protEffect HBG2 60(E3) Lys>Gln HbVar.599 commonName Hb F-Sacromonte HbVar.599 alias Hb F-Foch HbVar.599 ethnic Spanish HbVar.599 ethnic French HbVar.599 phenoCommon Hemoglobin variant HbVar.600 protEffect HBG2 60(E3) Lys>Glu HbVar.600 commonName Hb F-Emirates HbVar.600 ethnic Arabian HbVar.600 phenoCommon Hemoglobin variant HbVar.601 protEffect HBG2 64(E7) His>Tyr HbVar.601 commonName Hb F-M-Osaka HbVar.601 ethnic Caucasian HbVar.601 ethnic Japanese HbVar.601 phenoCommon Hemoglobin variant HbVar.602 protEffect HBG2 66(E9) Lys>Asn HbVar.602 commonName Hb F-Clarke HbVar.602 ethnic Hispanic HbVar.602 phenoCommon Hemoglobin variant HbVar.603 protEffect HBG2 67(E10) Lys>Arg HbVar.603 commonName Hb F-Shanghai HbVar.603 ethnic Chinese HbVar.603 phenoCommon Hemoglobin variant HbVar.604 protEffect HBG2 67(E10) Lys>Gln HbVar.604 commonName Hb F-Brooklyn HbVar.604 ethnic Caucasian HbVar.604 phenoCommon Hemoglobin variant HbVar.605 protEffect HBG2 73(E16) Gly>Arg HbVar.605 commonName Hb F-Minoo HbVar.605 ethnic Japanese HbVar.605 phenoCommon Hemoglobin variant HbVar.606 protEffect HBG2 76(E19) Ile>Thr HbVar.606 commonName Hb F-Lesvos HbVar.606 alias Hb F-Waynesboro HbVar.606 alias Hb F-Sassari HbVar.606 phenoCommon Hemoglobin variant HbVar.607 protEffect HBG2 78(EF1) His>Arg HbVar.607 commonName Hb F-Kennestone HbVar.607 ethnic Caucasian HbVar.607 phenoCommon Hemoglobin variant HbVar.608 protEffect HBG2 81(EF4) Asp>Asn HbVar.608 commonName Hb F-Marietta HbVar.608 ethnic Caucasian HbVar.608 phenoCommon Hemoglobin variant HbVar.609 protEffect HBG2 93(F8) His>Tyr HbVar.609 commonName Hb F-M-Fort Ripley HbVar.609 ethnic American HbVar.609 ethnic Canadian HbVar.609 phenoCommon Hemoglobin variant HbVar.610 protEffect HBG2 95(FG1) Asp>Asn HbVar.610 commonName Hb F-Columbus-GA HbVar.610 ethnic Caucasian HbVar.610 phenoCommon Hemoglobin variant HbVar.611 protEffect HBG2 102(G3) Glu>Lys HbVar.611 commonName Hb F-La Grange HbVar.611 ethnic Caucasian HbVar.611 phenoCommon Hemoglobin variant HbVar.612 protEffect HBG2 105(G6) Lys>Asn HbVar.612 commonName Hb F-Macedonia-II HbVar.612 ethnic Macedonian HbVar.612 phenoCommon Hemoglobin variant HbVar.613 protEffect HBG2 118(G19) His>Arg HbVar.613 commonName Hb F-Malta-I HbVar.613 ethnic Maltese HbVar.613 ethnic Italian HbVar.613 phenoCommon Hemoglobin variant HbVar.614 protEffect HBG2 121(GH3) Lys>Gln HbVar.614 commonName Hb F-Caltech HbVar.614 ethnic French HbVar.614 ethnic Swedish HbVar.614 ethnic Hispanic HbVar.614 phenoCommon Hemoglobin variant HbVar.615 protEffect HBG2 122(GH4) Glu>Lys HbVar.615 commonName Hb F-Carlton HbVar.615 ethnic Italian HbVar.615 phenoCommon Hemoglobin variant HbVar.616 protEffect HBG2 126(H3) Glu>Ala HbVar.616 commonName Hb F-Port Royal HbVar.616 ethnic Black HbVar.616 phenoCommon Hemoglobin variant HbVar.617 protEffect HBG2 131(H8) Trp>Gly HbVar.617 commonName Hb F-Poole HbVar.617 ethnic Black HbVar.617 ethnic Caucasian HbVar.617 phenoCommon Hemoglobin variant HbVar.618 protEffect HBG2 147(HC3) His>Tyr HbVar.618 commonName Hb F-Onoda HbVar.618 ethnic Japanese HbVar.618 phenoCommon Hemoglobin variant HbVar.619 protEffect HBG1 3(NA2) His>Gln HbVar.619 commonName Hb F-Macedonia-I HbVar.619 ethnic Macedonian HbVar.619 phenoCommon Hemoglobin variant HbVar.620 protEffect HBG1 6(A2) Glu>Lys HbVar.620 commonName Hb F-Texas-I HbVar.620 ethnic Black HbVar.620 phenoCommon Hemoglobin variant HbVar.621 protEffect HBG1 7(A3) Glu>Gly HbVar.621 commonName Hb F-Kotobuki HbVar.621 alias Hb F-Izumi HbVar.621 ethnic Japanese HbVar.621 phenoCommon Hemoglobin variant HbVar.622 protEffect HBG1 7(A3) Glu>Gln HbVar.622 commonName Hb F-Pordenone HbVar.622 ethnic Italian HbVar.622 phenoCommon Hemoglobin variant HbVar.623 protEffect HBG1 13(A9) Thr>Arg HbVar.623 commonName Hb F-Calluna HbVar.623 ethnic Caucasian HbVar.623 phenoCommon Hemoglobin variant HbVar.624 protEffect HBG1 23(B4) Asp>Gly HbVar.624 commonName Hb F-Kuala Lumpur HbVar.624 ethnic Indian HbVar.624 phenoCommon Hemoglobin variant HbVar.625 protEffect HBG1 37(C2) Pro>Arg HbVar.625 commonName Hb F-Pendergrass HbVar.625 ethnic Caucasian HbVar.625 phenoCommon Hemoglobin variant HbVar.626 protEffect HBG1 38(C3) Trp>Gly HbVar.626 commonName Hb F-Cobb HbVar.626 ethnic Caucasian HbVar.626 phenoCommon Hemoglobin variant HbVar.627 protEffect HBG1 40(C5) Gln>Arg HbVar.627 commonName Hb F-Bonaire-GA HbVar.627 ethnic Caucasian HbVar.627 ethnic Vietnamese HbVar.627 phenoCommon Hemoglobin variant HbVar.628 protEffect HBG1 41(C6) Arg>Lys HbVar.628 commonName Hb F-Woodstock HbVar.628 ethnic Black HbVar.628 phenoCommon Hemoglobin variant HbVar.629 protEffect HBG1 54(D4) Ala>Asp HbVar.629 commonName Hb F-Beech Island HbVar.629 ethnic Black HbVar.629 ethnic Caucasian HbVar.629 phenoCommon Hemoglobin variant HbVar.630 protEffect HBG1 62(E5) Lys>Glu HbVar.630 commonName Hb F-Jamaica HbVar.630 phenoCommon Hemoglobin variant HbVar.631 protEffect HBG1 73(E16) Gly>Arg HbVar.631 commonName Hb F-Iwata HbVar.631 ethnic Japanese HbVar.631 phenoCommon Hemoglobin variant HbVar.632 protEffect HBG1 74(E17) Asp>His HbVar.632 commonName Hb F-Xin-Su HbVar.632 ethnic Chinese HbVar.632 phenoCommon Hemoglobin variant HbVar.633 protEffect HBG1 76(E19) Ile>Thr HbVar.633 commonName Hb F-Sardinia (AgammaT) HbVar.633 phenoCommon Hemoglobin variant HbVar.634 protEffect HBG1 80(EF3) Asp>Asn HbVar.634 commonName Hb F-Dammam HbVar.634 ethnic Arabian HbVar.634 phenoCommon Hemoglobin variant HbVar.635 protEffect HBG1 81(EF4) Asp>Tyr HbVar.635 commonName Hb F-Victoria Jubilee HbVar.635 ethnic Black HbVar.635 phenoCommon Hemoglobin variant HbVar.636 protEffect HBG1 98(FG4) His>Arg HbVar.636 commonName Hb F-Dickinson HbVar.636 phenoCommon Hemoglobin variant HbVar.637 protEffect HBG1 122(GH4) Glu>Lys HbVar.637 commonName Hb F-Hull HbVar.637 ethnic English HbVar.637 phenoCommon Hemoglobin variant HbVar.638 protEffect HBG1 129(H6) Ala>Thr HbVar.638 commonName Hb F-Baskent HbVar.638 ethnic Turkish HbVar.638 phenoCommon Hemoglobin variant HbVar.639 protEffect HBG1 135(H12) Val>Met HbVar.639 commonName Hb F-Jiangsu HbVar.639 ethnic Chinese HbVar.639 phenoCommon Hemoglobin variant HbVar.640 protEffect HBG1 or HBG2 7(A3) Glu>Lys HbVar.640 commonName Hb F-Texas-II HbVar.640 ethnic English HbVar.640 phenoCommon Hemoglobin variant HbVar.641 protEffect HBG2 or HBG1 13(A9) Thr>Lys HbVar.641 commonName Hb F-Alexandra HbVar.641 ethnic Greek HbVar.641 ethnic Swiss HbVar.641 phenoCommon Hemoglobin variant HbVar.642 protEffect HBG1 or HBG2 109(G10) Asn>Lys HbVar.642 commonName Hb F-Ube HbVar.642 ethnic Japanese HbVar.642 phenoCommon Hemoglobin variant HbVar.643 protEffect HBG1 24(B5) Ala->0 HbVar.643 commonName Hb F-Mauritius HbVar.643 phenoCommon Hemoglobin variant HbVar.644 protEffect HBG1 26(B7) Gly>Arg HbVar.644 commonName Hb F-Xinjiang HbVar.644 ethnic Chinese HbVar.644 phenoCommon Hemoglobin variant HbVar.645 protEffect HBG1 44(CD2) Asp>Asn HbVar.645 commonName Hb F-Fukuyama HbVar.645 ethnic Japanese HbVar.645 phenoCommon Hemoglobin variant HbVar.646 protEffect HBG1 74(E17) Asp>Asn HbVar.646 commonName Hb F-Forest Park HbVar.646 ethnic Caucasian HbVar.646 phenoCommon Hemoglobin variant HbVar.647 protEffect HBG1 81(EF4) Asp>Asn HbVar.647 commonName Hb F-Yamaguchi HbVar.647 ethnic Japanese HbVar.647 phenoCommon Hemoglobin variant HbVar.648 protEffect HBG1 122(GH4) Glu>Lys HbVar.648 commonName Hb F-Siena HbVar.648 ethnic Italian HbVar.648 phenoCommon Hemoglobin variant HbVar.649 commonName -101 (C->T) beta+ (silent) HbVar.649 ethnic United Arab Emirates HbVar.649 ethnic Italian HbVar.649 ethnic Sicilian HbVar.649 ethnic Greek HbVar.649 ethnic Turkish HbVar.649 ethnic Bulgarian HbVar.649 phenoCommon beta+ thalassemia HbVar.650 protEffect HBD 2(NA1) Val>Ala HbVar.650 commonName Hb A2-Niigata HbVar.650 ethnic Japanese HbVar.650 phenoCommon Hemoglobin variant HbVar.651 protEffect HBD 3(NA2) His>Arg HbVar.651 commonName Hb A2-Sphakia HbVar.651 ethnic Cretan HbVar.651 ethnic Mediterranean HbVar.651 phenoCommon Hemoglobin variant HbVar.652 protEffect HBD 12(A8) Val>Gly HbVar.652 commonName Hb A2-Pylos HbVar.652 ethnic Greek HbVar.652 phenoCommon Hemoglobin variant HbVar.653 protEffect HBD 13(A9) Asn>Lys HbVar.653 commonName Hb A2-NYU HbVar.653 ethnic Russian HbVar.653 ethnic Greek HbVar.653 ethnic Jewish HbVar.653 ethnic Ukrainian HbVar.653 ethnic Dutch HbVar.653 phenoCommon Hemoglobin variant HbVar.654 protEffect HBD 17(A13) Gly>Arg HbVar.654 commonName Hb A2' or Hb B2 HbVar.654 ethnic Black HbVar.654 ethnic African-American HbVar.654 phenoCommon Hemoglobin variant HbVar.655 protEffect HBD 21(B2) Val>Glu HbVar.655 commonName Hb A2-Roosevelt HbVar.655 ethnic Iraqi HbVar.655 phenoCommon Hemoglobin variant HbVar.656 protEffect HBD 23(B4) Ala>Glu HbVar.656 commonName Hb A2-Flatbush HbVar.656 ethnic Black HbVar.656 phenoCommon Hemoglobin variant HbVar.657 protEffect HBD 25(B6) Gly>Asp HbVar.657 commonName Hb A2-Victoria HbVar.657 ethnic Iraqi HbVar.657 phenoCommon Hemoglobin variant HbVar.658 protEffect HBD 26(B7) Gly>Asp HbVar.658 commonName Hb A2-Yokoshima HbVar.658 ethnic Japanese HbVar.658 phenoCommon Hemoglobin variant HbVar.659 protEffect HBD 27(B8) Glu>Asp HbVar.659 commonName Hb A2-Puglia HbVar.659 ethnic Italian HbVar.659 phenoCommon Hemoglobin variant HbVar.660 protEffect HBD 28(B9) Ala>Ser HbVar.660 commonName Hb A2-Yialousa HbVar.660 alias Codon 27 (GCC->TCC) delta+ HbVar.660 ethnic Greek HbVar.660 ethnic Greek Cypriot HbVar.660 ethnic Sardinian HbVar.660 phenoCommon Thalassemia HbVar.661 protEffect HBD 37(C2) Pro>His HbVar.661 commonName Hb A2-Metaponto HbVar.661 ethnic Italian HbVar.661 phenoCommon Hemoglobin variant HbVar.662 protEffect HBD 44(CD2) Glu>Lys HbVar.662 commonName Hb A2-Melbourne HbVar.662 ethnic Italian HbVar.662 phenoCommon Hemoglobin variant HbVar.663 protEffect HBD 44(CD2) Glu>Gly HbVar.663 commonName Hb A2-Agrinio HbVar.663 ethnic Greek HbVar.663 phenoCommon Hemoglobin variant HbVar.664 protEffect HBD 48(CD6) Asp>Val HbVar.664 commonName Hb A2-Parkville HbVar.664 ethnic Italian HbVar.664 phenoCommon Hemoglobin variant HbVar.665 protEffect HBD 52(D2) Pro>Arg HbVar.665 commonName Hb A2-Adria HbVar.665 ethnic Italian HbVar.665 phenoCommon Hemoglobin variant HbVar.666 protEffect HBD 70(E13) Gly>Arg HbVar.666 commonName Hb A2-Indonesia HbVar.666 ethnic Indonesian HbVar.666 ethnic Malay HbVar.666 phenoCommon Hemoglobin variant HbVar.667 protEffect HBD 76(E19) Leu>Val HbVar.667 commonName Hb A2-Grovetown HbVar.667 ethnic Black HbVar.667 phenoCommon Hemoglobin variant HbVar.668 protEffect HBD 84(EF7) Gly>Asp HbVar.668 commonName Hb A2-Nishishinbashi HbVar.668 ethnic Japanese HbVar.668 phenoCommon Hemoglobin variant HbVar.669 protEffect HBD 86(F1) Phe>Ser HbVar.669 commonName Hb A2-Etolia HbVar.669 ethnic Greek HbVar.669 phenoCommon Hemoglobin variant HbVar.670 protEffect HBD 91(F6) Glu>Val HbVar.670 commonName Hb A2-Honai HbVar.670 ethnic Japanese HbVar.670 phenoCommon Hemoglobin variant HbVar.671 protEffect HBD 94(F9) Cys>Gly HbVar.671 commonName Hb A2-Sant' Antioco HbVar.671 ethnic Sardinian HbVar.671 phenoCommon Hemoglobin variant HbVar.672 protEffect HBD 99(FG5) Val>Met HbVar.672 commonName Hb A2-Wrens HbVar.672 alias Codon 98 (GTG->ATG) delta+ HbVar.672 ethnic Black HbVar.672 phenoCommon delta+ thalassemia HbVar.673 protEffect HBD 100(G1) Asp>Asn HbVar.673 commonName Hb A2-Canada HbVar.673 ethnic Indian HbVar.673 phenoCommon Hemoglobin variant HbVar.674 protEffect HBD 117(G18) Arg>His HbVar.674 commonName Hb A2-Coburg HbVar.674 ethnic Sicilian HbVar.674 phenoCommon Hemoglobin variant HbVar.675 protEffect HBD 117(G18) Arg>Cys HbVar.675 commonName Hb A2-Troodos HbVar.675 ethnic Cypriot HbVar.675 phenoCommon Hemoglobin variant HbVar.676 protEffect HBD 118(G19) Asn>Asp HbVar.676 commonName Hb A2-Liangcheng HbVar.676 ethnic Chinese HbVar.676 phenoCommon Hemoglobin variant HbVar.677 protEffect HBD 122(GH4) Glu>Val HbVar.677 commonName Hb A2-Manzanares HbVar.677 ethnic Spanish HbVar.677 phenoCommon Hemoglobin variant HbVar.678 protEffect HBD 126(H3) Gln>Glu HbVar.678 commonName Hb A2-Zagreb HbVar.678 ethnic Yugoslavian HbVar.678 phenoCommon Hemoglobin variant HbVar.679 protEffect HBD 137(H14) Gly>Asp HbVar.679 commonName Hb A2-Babinga HbVar.679 ethnic Black HbVar.679 ethnic Babinga Pygmies HbVar.679 phenoCommon Hemoglobin variant HbVar.680 protEffect HBD 142(H19) Leu>Pro HbVar.680 commonName Hb A2-Pelendri HbVar.680 ethnic Cypriot HbVar.680 phenoCommon Hemoglobin variant HbVar.681 protEffect HBD 143(H20) Ala>Asp HbVar.681 commonName Hb A2-Fitzroy HbVar.681 ethnic Greek HbVar.681 phenoCommon Hemoglobin variant HbVar.682 protEffect HBA2 80(EF8) Ala>Gly HbVar.682 commonName Hb J-Singapore HbVar.682 ethnic Malay HbVar.682 phenoCommon Hemoglobin variant HbVar.683 protEffect HBB 7(A3) Glu>Val AND HBB 24(B5) Val>Ile HbVar.683 commonName Hb S-Antilles HbVar.683 ethnic French West Indies HbVar.683 phenoCommon Hemoglobin variant HbVar.684 protEffect HBB 7(A3) Glu>Val AND HBB 59(E2) Pro>Arg HbVar.684 commonName Hb C-Ziguinchor HbVar.684 ethnic African HbVar.684 phenoCommon Hemoglobin variant HbVar.685 protEffect HBB 7(A3) Glu>Val AND HBB 74(E17) Asp>Asn HbVar.685 commonName Hb C-Harlem HbVar.685 alias Hb C-Georgetown HbVar.685 ethnic Black HbVar.685 phenoCommon Hemoglobin variant HbVar.686 protEffect HBB 7(A3) Glu>Val AND HBB 83(EF6) Lys>Asn HbVar.686 commonName Hb S-Providence HbVar.686 ethnic West African HbVar.686 phenoCommon Hemoglobin variant HbVar.687 protEffect HBB 7(A3) Glu>Val AND HBB 122(GH4) Glu>Lys HbVar.687 commonName Hb S-Oman HbVar.687 ethnic Oman HbVar.687 phenoCommon Hemoglobin variant HbVar.688 protEffect HBB 7(A3) Glu>Val AND HBB 143(H20) Ala>Val HbVar.688 commonName Hb S-Travis HbVar.688 ethnic Black HbVar.688 phenoCommon Hemoglobin variant HbVar.689 protEffect HBB 7(A3) Glu>Lys AND HBB 38(C3) Trp>Arg HbVar.689 commonName Hb C-Rothschild HbVar.689 ethnic Nigerian HbVar.689 phenoCommon Hemoglobin variant HbVar.690 protEffect HBB 7(A3) Glu>Lys AND HBB 96(FG2) Lys>Glu HbVar.690 commonName Hb Arlington Park HbVar.690 ethnic Black HbVar.690 phenoCommon Hemoglobin variant HbVar.691 protEffect HBB 27(B8) Glu>Lys AND HBB 105(G6) Arg>Thr HbVar.691 commonName Hb Corbeil HbVar.691 ethnic French HbVar.691 phenoCommon Hemoglobin variant HbVar.692 protEffect HBB 27(B8) Glu>Lys AND HBB 122(GH4) Glu>Gln HbVar.692 commonName Hb T-Cambodia HbVar.692 ethnic Cambodian HbVar.692 phenoCommon Hemoglobin variant HbVar.692 phenoCommon Normal HbVar.692 phenoCommon mild Anemia HbVar.692 phenoCommon hemolytic Anemia HbVar.692 phenoCommon Target cells HbVar.693 protEffect HBB 52(D2) Pro>Ser AND HBB 53(D3) Asp>Asn HbVar.693 commonName Hb Grenoble HbVar.693 ethnic French HbVar.693 phenoCommon Hemoglobin variant HbVar.694 protEffect HBB 57(D7) Gly>Arg AND HBB 87(F2) Ala>Pro HbVar.694 commonName Hb Poissy HbVar.694 ethnic French HbVar.694 phenoCommon Hemoglobin variant HbVar.695 protEffect HBB 76(E19) Leu>Pro AND HBB 142(H19) Leu->0 HbVar.695 commonName Hb Atlanta-Coventry HbVar.695 phenoCommon Hemoglobin variant HbVar.696 protEffect HBB 78(EF1) His>Tyr AND HBB 81(EF4) Asn>Ser HbVar.696 commonName Hb Villeparisis HbVar.696 ethnic French HbVar.696 phenoCommon Hemoglobin variant HbVar.697 protEffect HBB 93(F8) His>Pro AND HBB 105(G6) Arg>Ser HbVar.697 commonName Hb Duino HbVar.697 ethnic Italian HbVar.697 phenoCommon Hemoglobin variant HbVar.698 protEffect HBB 99(FG5) Val>Met AND HBB 33(B14) Leu>Gln HbVar.698 commonName Hb Medicine Lake HbVar.698 alias Codon 32 (T->A) CTG->CAG; codon 98 (G->A) GTG->ATG beta0 HbVar.698 ethnic Caucasian HbVar.698 phenoCommon beta0 thalassemia HbVar.699 protEffect HBB 120(GH2) Gly>Asp HbVar.699 commonName Hb Fannin-Lubbock I HbVar.699 ethnic Mexican HbVar.699 ethnic American HbVar.699 ethnic Spanish HbVar.699 phenoCommon Hemoglobin variant HbVar.700 protEffect HBB 115(G16) Leu>Met AND HBB 120(GH2) Gly>Asp HbVar.700 commonName Hb Masuda HbVar.700 ethnic Japanese HbVar.700 phenoCommon Hemoglobin variant HbVar.701 protEffect HBB 122(GH4) Glu>Gln AND HBB 94(F9) Cys>Arg HbVar.701 commonName Hb Cleveland HbVar.701 phenoCommon Hemoglobin variant HbVar.702 protEffect HBA2 or HBA1 140 (-A); modified C-terminal sequence: (140)Asn-Thr-Val-Lys-Leu-Glu-Pro-(147)Arg-COOH HbVar.702 commonName Hb Wayne HbVar.702 ethnic Caucasian HbVar.702 phenoCommon Hemoglobin variant HbVar.703 protEffect HBA2 143, Stop>Gln; modified C-terminal sequence: (143)Gln-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.703 commonName Hb Constant Spring (Hb CS) HbVar.703 alias Codon 142 (TAA->CAA) of the alpha2 gene alpha-Thal-2 HbVar.703 ethnic Arabian HbVar.703 ethnic Cambodian HbVar.703 ethnic Chinese HbVar.703 ethnic Greek HbVar.703 ethnic Indian HbVar.703 ethnic Indonesian HbVar.703 ethnic Laotian HbVar.703 ethnic Malasian HbVar.703 ethnic Sicilian HbVar.703 ethnic Vietnamese HbVar.703 phenoCommon alpha-2 thalassemia HbVar.704 protEffect HBA2 143, Stop>Lys; modified C-terminal sequence: (143)Lys-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.704 commonName Hb Icaria HbVar.704 alias Codon 142 (TAA->AAA) of the alpha2 gene alpha-Thal-2 HbVar.704 ethnic Macedonian HbVar.704 ethnic Greek HbVar.704 ethnic Balkan HbVar.704 phenoCommon alpha-2 thalassemia HbVar.705 protEffect HBA2 143, Stop>Ser; modified C-terminal sequence: (143)Ser-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.705 commonName Hb Koya Dora HbVar.705 alias Codon 142 (TAA->TCA) of the alpha2 gene alpha-Thal-2 HbVar.705 ethnic Koya Dora HbVar.705 phenoCommon alpha-2 thalassemia HbVar.705 phenoCommon mild Anemia HbVar.705 phenoCommon Microcytosis HbVar.705 phenoCommon Hypochromia HbVar.706 protEffect HBA2 143, Stop>Glu; modified C-terminal sequence: (143)Glu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.706 commonName Hb Seal Rock HbVar.706 alias Codon 142 (TAA->GAA) of the alpha2 gene alpha-Thal-2 HbVar.706 ethnic Black HbVar.706 phenoCommon alpha-2 thalassemia HbVar.707 protEffect HBA2 143, Stop>Tyr; modified C-terminal sequence: (143)Tyr-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.707 commonName Hb Pakse HbVar.707 alias Codon 142 (TAA->TAT) of the alpha2 gene alpha-Thal-2 HbVar.707 ethnic Laotian HbVar.707 ethnic Thai HbVar.707 phenoCommon Thalassemia HbVar.708 protEffect HBB 144 (-A); modified C-terminal sequence: (144)Pro-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(157)Tyr-COOH HbVar.708 commonName Hb Saverne HbVar.708 ethnic French HbVar.708 phenoCommon Hemoglobin variant HbVar.709 protEffect HBB 146(+CT); modified C-terminal sequence: (146)Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(158)Tyr-COOH HbVar.709 commonName Hb Cranston HbVar.709 ethnic Italian HbVar.709 ethnic American HbVar.709 phenoCommon Hemoglobin variant HbVar.710 protEffect HBB 148(+AC); modified C-terminal sequence: (148)Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(158)Tyr-COOH HbVar.710 commonName Hb Tak HbVar.710 ethnic Thai HbVar.710 phenoCommon Hemoglobin variant HbVar.711 protEffect HBA2 or HBA1 2(NA1) Val>Glu HbVar.711 commonName Hb Thionville HbVar.711 phenoCommon Hemoglobin variant HbVar.712 protEffect HBB 2(NA1) Val>Glu HbVar.712 commonName Hb Doha HbVar.712 ethnic Qatari HbVar.712 phenoCommon Hemoglobin variant HbVar.713 protEffect HBB 2(NA1) Val>Met HbVar.713 commonName Hb South Florida HbVar.713 ethnic Caucasian HbVar.713 phenoCommon Hemoglobin variant HbVar.714 protEffect HBB 3(NA2) His>Pro HbVar.714 commonName Hb Marseille HbVar.714 alias Hb Long Island-Marseille HbVar.714 ethnic French HbVar.714 ethnic American HbVar.714 ethnic Australian HbVar.714 ethnic Maltese HbVar.714 phenoCommon Hemoglobin variant HbVar.715 protEffect HBA1 or HBA2 7(A4) Asp->0 HbVar.715 commonName Hb Boyle Heights HbVar.715 ethnic Mexican HbVar.715 phenoCommon Hemoglobin variant HbVar.716 protEffect HBA1 39(C3) Thr->0 OR HBA1 40(C4) Thr->0 HbVar.716 commonName Hb Taybe HbVar.716 alias Codons 38/39 (-ACC); deleted from the alpha1-globin gene alpha-Thal-2 HbVar.716 ethnic Arabian HbVar.716 phenoCommon alpha-2 thalassemia HbVar.716 phenoCommon severe Anemia HbVar.716 phenoCommon chronic Anemia HbVar.716 phenoCommon hemolytic Anemia HbVar.717 protEffect HBA1 52(CE9) - 59(E7) Gly-Ser-Ala-Gln-Val-Lys-Gly-His->0 OR HBA1 53(E1) - 60(E8) Ser-Ala-Gln-Val-Lys-Gly-His-Gly->0 HbVar.717 commonName Hb J-Biskra HbVar.717 ethnic Algerian HbVar.717 phenoCommon Hemoglobin variant HbVar.718 protEffect HBA2 75(EF3) Asp->0 OR HBA2 76(EF4) Asp->0 HbVar.718 commonName Hb Watts HbVar.718 ethnic Mexican HbVar.718 ethnic American HbVar.718 phenoCommon Hemoglobin variant HbVar.719 protEffect HBA2 141(HC2) Tyr-Arg->0 HbVar.719 commonName Hb Natal HbVar.719 ethnic Asian Indian HbVar.719 phenoCommon Hemoglobin variant HbVar.720 protEffect HBB 7(A3) Glu->0 OR HBB 8(A4) Glu->0 HbVar.720 commonName Hb Leiden HbVar.720 ethnic Netherlands HbVar.720 ethnic Chinese HbVar.720 ethnic American HbVar.720 ethnic South African HbVar.720 ethnic Mexican HbVar.720 ethnic Yugoslavian HbVar.720 phenoCommon Hemoglobin variant HbVar.721 protEffect HBB 18(A14) - 19(A15) Lys-Val->0 HbVar.721 commonName Hb Lyon HbVar.721 ethnic French HbVar.721 ethnic Spanish HbVar.721 ethnic North African HbVar.721 phenoCommon Hemoglobin variant HbVar.722 protEffect HBB 24(B5) Val->0 HbVar.722 commonName Hb Freiburg HbVar.722 ethnic German HbVar.722 phenoCommon Hemoglobin variant HbVar.723 protEffect HBB 25(B6) Gly->0 OR HBB 26(B7) Gly->0 HbVar.723 commonName Hb Higashitochigi (Hb HT) HbVar.723 ethnic Japanese HbVar.723 phenoCommon Hemoglobin variant HbVar.724 protEffect HBB 42(C7) Phe->0 OR HBB 43(CD1) Phe->0 HbVar.724 commonName Hb Bruxelles HbVar.724 ethnic Belgian HbVar.724 phenoCommon Hemoglobin variant HbVar.725 protEffect HBB 43(CD1) - 45(CD3) Phe-Glu-Ser->0 OR HBB 44(CD2) - 46(CD4) Glu-Ser-Phe->0 HbVar.725 commonName Hb Niteroi HbVar.725 ethnic Brazilian HbVar.725 phenoCommon Hemoglobin variant HbVar.726 protEffect HBB 57(D7) - 60(E3) Gly-Asn-Pro-Lys->0 HbVar.726 commonName Hb Tochigi HbVar.726 ethnic Japanese HbVar.726 phenoCommon Hemoglobin variant HbVar.727 protEffect HBB 75(E18) - 76(E19) Gly-Leu->0 HbVar.727 commonName Hb Saint-Antoine HbVar.727 ethnic Mediterranean HbVar.727 phenoCommon Hemoglobin variant HbVar.728 protEffect HBB 76(E19) Leu->0 HbVar.728 commonName Hb Vicksburg HbVar.728 ethnic Black HbVar.728 phenoCommon Hemoglobin variant HbVar.729 protEffect HBB 88(F3) Thr->0 HbVar.729 commonName Hb Tours HbVar.729 ethnic French HbVar.729 phenoCommon Hemoglobin variant HbVar.730 protEffect HBB 92(F7) - 96(FG2) Leu-His-Cys-Asp-Lys->0 HbVar.730 commonName Hb Gun Hill HbVar.730 ethnic German HbVar.730 ethnic English HbVar.730 ethnic Black HbVar.730 phenoCommon Hemoglobin variant HbVar.731 protEffect HBB 142(H19) Leu->0 HbVar.731 commonName Hb Coventry HbVar.731 phenoCommon Hemoglobin variant HbVar.732 protEffect Glu- inserted between codons 38(C2) and 39(C3) of HBA1 or HBA2 HbVar.732 commonName Hb Catonsville HbVar.732 phenoCommon Hemoglobin variant HbVar.733 protEffect His-Leu-Pro-Ala-Glu- inserted between codons 117(GH4) and 118(GH5) of HBA1 or HBA2 HbVar.733 commonName Hb Zaire HbVar.733 ethnic Zairian HbVar.733 phenoCommon Hemoglobin variant HbVar.734 protEffect I- inserted between codons 118(GH5) and 119(H1) of HBA1 HbVar.734 commonName Hb Phnom Penh HbVar.734 ethnic Cambodian HbVar.734 phenoCommon Hemoglobin variant HbVar.735 protEffect Glu-Phe-Thr- inserted between codons 119(H1) and 120(H2) of HBA1 or HBA2 HbVar.735 commonName Hb Grady HbVar.735 ethnic Black HbVar.735 phenoCommon Hemoglobin variant HbVar.736 protEffect Glu-Leu-His-Cys-Asp- inserted between codons 95(FG1) and 96(FG2) of HBB HbVar.736 commonName Hb Fairfax HbVar.736 ethnic African-American HbVar.736 phenoCommon Hemoglobin variant HbVar.737 protEffect Leu-His-Cys-Asp-Lys- inserted between codons 96(FG2) and 97(FG3) of HBB HbVar.737 commonName Hb Koriyama HbVar.737 ethnic Japanese HbVar.737 phenoCommon Hemoglobin variant HbVar.738 protEffect HBB 74(E17) - 76(E19) Asp-Gly-Leu->0 AND Ala-Arg-Cys-Gln- inserted between codons 73(E16) and 77(E20) of HBB HbVar.738 commonName Hb Montreal HbVar.738 ethnic French Canadian HbVar.738 phenoCommon Hemoglobin variant HbVar.739 protEffect HBB 98(FG4) - 99(FG5) His-Val->0 AND inserted Leu HbVar.739 commonName Hb Galicia HbVar.739 ethnic Spanish HbVar.739 phenoCommon Hemoglobin variant HbVar.740 protEffect HBB 140(H17) Asn>Tyr AND HBB 139(H16) Ala->0 HbVar.740 commonName Hb Nijkerk HbVar.740 alias Hb Nykerk HbVar.740 ethnic Dutch HbVar.740 phenoCommon Hemoglobin variant HbVar.741 protEffect HBB 142(H19) - 145(HC1) Leu-Ala-His-Lys->0 AND inserted Gln HbVar.741 commonName Hb Birmingham HbVar.741 ethnic Black HbVar.741 phenoCommon Hemoglobin variant HbVar.742 protEffect delta-beta hybrid (HBD through 23; HBB from 50) HbVar.742 commonName Hb Lepore-Hollandia HbVar.742 ethnic Papuan HbVar.742 phenoCommon Thalassemia HbVar.743 protEffect delta-beta hybrid (HBD through 51; HBB from 86) HbVar.743 commonName Hb Lepore-Baltimore HbVar.743 ethnic Spanish HbVar.743 ethnic African HbVar.743 ethnic Yugoslavian HbVar.743 phenoCommon Thalassemia HbVar.744 protEffect delta-beta hybrid (HBD through 88; HBB from 116) HbVar.744 commonName Hb Lepore-Boston-Washington HbVar.744 ethnic Australian HbVar.744 ethnic Cuban HbVar.744 ethnic Cypriot HbVar.744 ethnic English HbVar.744 ethnic Greek HbVar.744 ethnic Italian HbVar.744 ethnic Jamaican HbVar.744 ethnic Mexican HbVar.744 ethnic Rumanian HbVar.744 ethnic Turkish HbVar.744 ethnic Yugoslavian HbVar.744 phenoCommon Thalassemia HbVar.745 protEffect delta-beta hybrid (delta through 13; beta from 22) AND beta-delta hybrid (HBD through 13; HBB from 22) AND delta-beta hybrid (delta through 13; beta from 22) AND beta-delta hybrid (HBB through 50; HBD from 86) HbVar.745 commonName Hb Parchman HbVar.745 ethnic Black HbVar.745 phenoCommon Hemoglobin variant HbVar.746 protEffect beta-delta hybrid (HBB through 13; HBD from 22) HbVar.746 commonName Hb Miyada HbVar.746 ethnic Japanese HbVar.746 ethnic Italian HbVar.746 phenoCommon Hemoglobin variant HbVar.747 protEffect beta-delta hybrid (HBB through 23; HBD from 116) HbVar.747 commonName Hb P-Congo HbVar.747 ethnic Congolese HbVar.747 phenoCommon Hemoglobin variant HbVar.749 protEffect HBD 138(H15) Val->0 HbVar.749 commonName Hb Lincoln Park HbVar.749 ethnic Mexican HbVar.749 phenoCommon Hemoglobin variant HbVar.750 protEffect beta-delta hybrid (HBB through 88; HBD from 116) HbVar.750 commonName Hb P-India HbVar.750 ethnic Indian HbVar.750 phenoCommon Hemoglobin variant HbVar.751 protEffect Agamma-beta hybrid (HBG1 through 81; HBB from 87) HbVar.751 commonName Hb Kenya HbVar.751 alias HPFH-7; Kenya HbVar.751 ethnic African-American HbVar.751 ethnic Kenyan HbVar.751 ethnic Ugandan HbVar.751 phenoCommon Thalassemia HbVar.752 commonName -92 (C->T) beta+ (mild) HbVar.752 ethnic Italian HbVar.752 ethnic Sicilian HbVar.752 phenoCommon beta+ thalassemia HbVar.753 protEffect HBA1 120(H2) Pro>Leu HbVar.753 commonName Hb Diamant HbVar.753 ethnic French West Indies HbVar.753 phenoCommon Hemoglobin variant HbVar.754 commonName -90 (C->T) beta+ HbVar.754 ethnic Portuguese HbVar.754 phenoCommon beta+ thalassemia HbVar.755 commonName -88 (C->A) beta+ HbVar.755 ethnic Egyptian HbVar.755 ethnic Iranian HbVar.755 ethnic Bahrein HbVar.755 phenoCommon beta+ thalassemia HbVar.756 commonName -88 (C->T) beta+ HbVar.756 ethnic Lebanese HbVar.756 ethnic Pakistani HbVar.756 ethnic Punjabi HbVar.756 ethnic Pathan HbVar.756 ethnic Black HbVar.756 ethnic Syria HbVar.756 phenoCommon beta+ thalassemia HbVar.757 commonName -87 (C->A) beta+ HbVar.757 ethnic Argentine HbVar.757 ethnic Black HbVar.757 phenoCommon beta+ thalassemia HbVar.758 commonName -87 (C->G) beta+ HbVar.758 ethnic Lebanese HbVar.758 ethnic Jordan HbVar.758 ethnic Egyptian HbVar.758 ethnic Italian HbVar.758 ethnic Sardinian HbVar.758 ethnic Sicilian HbVar.758 ethnic Greek HbVar.758 ethnic Turkish HbVar.758 ethnic Macedonian HbVar.758 ethnic Bulgarian HbVar.758 ethnic Syria HbVar.758 ethnic Serbian HbVar.758 ethnic Iranian HbVar.758 phenoCommon beta+ thalassemia HbVar.759 commonName -87 (C->T) beta+ HbVar.759 ethnic Italian HbVar.759 phenoCommon beta+ thalassemia HbVar.760 commonName -86 (C->A) beta+ HbVar.760 ethnic Italian HbVar.760 phenoCommon beta+ thalassemia HbVar.761 commonName -86 (C->G) beta+ HbVar.761 ethnic Thai HbVar.761 ethnic Lebanese HbVar.761 phenoCommon beta+ thalassemia HbVar.762 commonName -32 (C->A) beta+ HbVar.762 ethnic Taiwanese HbVar.762 phenoCommon beta+ thalassemia HbVar.763 commonName -31 (A->C) beta+ HbVar.763 ethnic Italian HbVar.763 phenoCommon beta+ thalassemia HbVar.764 commonName -31 (A->G) beta+ HbVar.764 ethnic Japanese HbVar.764 phenoCommon beta+ thalassemia HbVar.765 commonName -30 (T->A) beta+ HbVar.765 ethnic Lebanese HbVar.765 ethnic Israel HbVar.765 ethnic Tunisian HbVar.765 ethnic Algerian HbVar.765 ethnic Greek HbVar.765 ethnic Turkish HbVar.765 ethnic Macedonian HbVar.765 ethnic Bulgarian HbVar.765 ethnic Azerbaijan HbVar.765 ethnic Syria HbVar.765 ethnic Iranian HbVar.765 phenoCommon beta+ thalassemia HbVar.766 commonName -30 (T->C) beta (0 or + unclear) HbVar.766 ethnic Chinese HbVar.766 phenoCommon beta (0 or + unclear) thalassemia HbVar.767 commonName -29 (A->G) beta+ HbVar.767 ethnic Algerian HbVar.767 ethnic Malaysian HbVar.767 ethnic Taiwanese HbVar.767 ethnic Chinese HbVar.767 ethnic Black HbVar.767 phenoCommon beta+ thalassemia HbVar.768 commonName -28 (A->C) beta+ HbVar.768 ethnic Turkish HbVar.768 ethnic Azerbaijan HbVar.768 ethnic Kurdish Jewish HbVar.768 phenoCommon beta+ thalassemia HbVar.769 commonName -28 (A->G) beta+ HbVar.769 ethnic Thai HbVar.769 ethnic Malaysian HbVar.769 ethnic Taiwanese HbVar.769 ethnic Chinese HbVar.769 ethnic Japanese HbVar.769 phenoCommon beta+ thalassemia HbVar.770 commonName CAP +1 (A->C) beta+ HbVar.770 ethnic Saudi Arabian HbVar.770 ethnic Egyptian HbVar.770 ethnic Pakistani HbVar.770 ethnic Punjabi HbVar.770 ethnic Pathan HbVar.770 ethnic Thai HbVar.770 ethnic Malaysian HbVar.770 ethnic Singapore HbVar.770 ethnic Chinese HbVar.770 phenoCommon beta+ thalassemia HbVar.771 commonName 5'UTR; +10 (-T) beta+ (silent) HbVar.771 ethnic Greek HbVar.771 phenoCommon beta+ thalassemia HbVar.772 commonName 5'UTR; +22 (G->A) beta+ HbVar.772 ethnic Bulgarian HbVar.772 ethnic Azerbaijan HbVar.772 ethnic Turkish HbVar.772 phenoCommon beta+ thalassemia HbVar.773 commonName 5'UTR; +33 (C->G) beta+ (silent) HbVar.773 ethnic Greek Cypriot HbVar.773 phenoCommon beta+ thalassemia HbVar.774 commonName 5'UTR; +43 to +40 (-AAAC) beta+ HbVar.774 ethnic Chinese HbVar.774 phenoCommon beta+ thalassemia HbVar.775 protEffect HBB Initiation codon Met>Val HbVar.775 commonName Initiation codon ATG->GTG beta0 HbVar.775 ethnic Hungarian HbVar.775 ethnic Singapore HbVar.775 ethnic Japanese HbVar.775 phenoCommon beta0 thalassemia HbVar.776 protEffect HBB Initiation codon Met>Thr HbVar.776 commonName Initiation codon ATG->ACG beta0 HbVar.776 ethnic Croatian HbVar.776 ethnic Russian HbVar.776 ethnic Japanese HbVar.776 phenoCommon beta0 thalassemia HbVar.777 protEffect HBB Initiation codon Met>Arg HbVar.777 commonName Initiation codon ATG->AGG beta0 HbVar.777 ethnic Japanese HbVar.777 ethnic Korean HbVar.777 ethnic Northern European HbVar.777 phenoCommon beta0 thalassemia HbVar.778 protEffect HBB Initiation codon Met>Ile HbVar.778 commonName Initiation codon ATG->ATA beta0 HbVar.778 ethnic Japanese HbVar.778 ethnic Italian HbVar.778 ethnic Swedish HbVar.778 phenoCommon beta0 thalassemia HbVar.779 protEffect HBB Initiation codon Met>Ile HbVar.779 commonName Initiation codon ATG->ATC beta0 HbVar.779 ethnic Japanese HbVar.779 phenoCommon beta0 thalassemia HbVar.780 protEffect HBB Initiation codon Met>Ile HbVar.780 commonName Initiation codon ATG->ATT beta0 HbVar.780 ethnic Iranian HbVar.780 phenoCommon beta0 thalassemia HbVar.781 protEffect HBB 2 (-G); modified C-terminal sequence: (2)Cys-(3)Thr-COOH HbVar.781 commonName Codon 1 (-G); GTG(Val)->-TG beta0 HbVar.781 ethnic Italian HbVar.781 ethnic Sardinian HbVar.781 ethnic Sicilian HbVar.781 phenoCommon beta0 thalassemia HbVar.782 protEffect HBB 3(NA2) - 5(A1) His-Leu-Thr->0 AND HBB 3(+CCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT); modified C-terminal sequence: (3)Pro-Glu-Val-Lys-Ser-(8)Ala-COOH HbVar.782 commonName Codons 2/3/4 (-9 bp; +31 bp); beta0 HbVar.782 ethnic Algerian HbVar.782 phenoCommon beta0 thalassemia HbVar.783 protEffect HBB 6 (-CT); modified C-terminal sequence: (6)Arg-Gly-Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val- Gly-Gln-Gly-Glu-Arg-(21)Gly-COOH HbVar.783 commonName Codon 5 (-CT); CCT(Pro)->C-- beta0 HbVar.783 ethnic Lebanese HbVar.783 ethnic Jordan HbVar.783 ethnic Israel HbVar.783 ethnic United Arab Emirates HbVar.783 ethnic Oman HbVar.783 ethnic Egyptian HbVar.783 ethnic Tunisian HbVar.783 ethnic Italian HbVar.783 ethnic Sicilian HbVar.783 ethnic Greek HbVar.783 ethnic Turkish HbVar.783 ethnic Macedonian HbVar.783 ethnic Bulgarian HbVar.783 ethnic English HbVar.783 ethnic Iranian HbVar.783 ethnic Pakistani HbVar.783 ethnic Punjabi HbVar.783 ethnic Maharashtran HbVar.783 ethnic Pathan HbVar.783 ethnic Syria HbVar.783 ethnic Albania HbVar.783 phenoCommon beta0 thalassemia HbVar.784 protEffect HBB 7 (-A); modified C-terminal sequence: (7)Gly-Arg-Ser-Leu-Pro-Leu-Leu-Pro-Cys-Gly- Ala-(18)Arg-COOH HbVar.784 commonName Codon 6 (-A); GAG(Glu)->G-G beta0 HbVar.784 ethnic Jordan HbVar.784 ethnic Saudi Arabian HbVar.784 ethnic Egyptian HbVar.784 ethnic Tunisian HbVar.784 ethnic Algerian HbVar.784 ethnic Italian HbVar.784 ethnic Sardinian HbVar.784 ethnic Sicilian HbVar.784 ethnic Greek HbVar.784 ethnic Greek Cypriot HbVar.784 ethnic Turkish HbVar.784 ethnic Macedonian HbVar.784 ethnic Bulgarian HbVar.784 ethnic Portuguese HbVar.784 ethnic Spanish HbVar.784 ethnic Black HbVar.784 ethnic Argentine HbVar.784 phenoCommon beta0 thalassemia HbVar.785 protEffect HBB 9 (-AA); modified C-terminal sequence: (9)Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly- Glu-Arg-(21)Gly-COOH HbVar.785 commonName Codon 8 (-AA); AAG(Lys)->--G beta0 HbVar.785 ethnic Lebanese HbVar.785 ethnic Israel HbVar.785 ethnic Kuwaiti HbVar.785 ethnic United Arab Emirates HbVar.785 ethnic Egyptian HbVar.785 ethnic Tunisian HbVar.785 ethnic Italian HbVar.785 ethnic Sicilian HbVar.785 ethnic Greek HbVar.785 ethnic Greek Cypriot HbVar.785 ethnic Turkish HbVar.785 ethnic Macedonian HbVar.785 ethnic Croatian HbVar.785 ethnic Bulgarian HbVar.785 ethnic Azerbaijan HbVar.785 ethnic Russian HbVar.785 ethnic Spanish HbVar.785 ethnic Syria HbVar.785 phenoCommon beta0 thalassemia HbVar.786 protEffect HBB 10(+G); modified C-terminal sequence: (10)Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH HbVar.786 commonName Codons 8/9 (+G); AAG TCT(Lys;Ser)->AAG G TCT beta0 HbVar.786 ethnic Lebanese HbVar.786 ethnic Saudi Arabian HbVar.786 ethnic Kuwaiti HbVar.786 ethnic United Arab Emirates HbVar.786 ethnic Egyptian HbVar.786 ethnic Greek HbVar.786 ethnic Turkish HbVar.786 ethnic Bulgarian HbVar.786 ethnic Azerbaijan HbVar.786 ethnic Spanish HbVar.786 ethnic Iranian HbVar.786 ethnic Pakistani HbVar.786 ethnic Punjabi HbVar.786 ethnic Bangladesh HbVar.786 ethnic Pathan HbVar.786 ethnic Thai HbVar.786 ethnic Singapore HbVar.786 ethnic Japanese HbVar.786 ethnic Syria HbVar.786 ethnic Bahrein HbVar.786 phenoCommon beta0 thalassemia HbVar.787 protEffect HBB 11(+T); modified C-terminal sequence: (11)Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH HbVar.787 commonName Codons 9/10 (+T); TCT GCC(Ser;Ala)->TCT T GCC beta0 HbVar.787 ethnic Greek HbVar.787 phenoCommon beta0 thalassemia HbVar.788 protEffect HBB 11(A7) Ala>Ala HbVar.788 commonName Codon 10 (C->A); GCC(Ala)->GCA(Ala) beta+ HbVar.788 ethnic Indian HbVar.788 phenoCommon beta+ thalassemia HbVar.789 protEffect HBB 12 (-T); modified C-terminal sequence: (12)Val-Leu-Pro-Cys-Gly-Ala-(18)Arg-COOH HbVar.789 commonName Codon 11 (-T); GTT(Val)->GT- beta0 HbVar.789 ethnic Spanish HbVar.789 ethnic Mexican HbVar.789 phenoCommon beta0 thalassemia HbVar.790 protEffect HBB 16(+G); modified C-terminal sequence: (16)Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH HbVar.790 commonName Codons 14/15 (+G); CTG TGG(Leu;Trp)->CTG G TGG beta0 HbVar.790 ethnic Thai HbVar.790 ethnic Chinese HbVar.790 phenoCommon beta0 thalassemia HbVar.791 protEffect HBB 16(A12) Trp>Stop HbVar.791 commonName Codon 15 (G->A); TGG(Trp)->TAG(stop codon) beta0 HbVar.791 ethnic Israel HbVar.791 ethnic United Arab Emirates HbVar.791 ethnic Oman HbVar.791 ethnic Turkish HbVar.791 ethnic Pakistani HbVar.791 ethnic Punjabi HbVar.791 ethnic Maharashtran HbVar.791 ethnic Bangladesh HbVar.791 ethnic Pathan HbVar.791 ethnic Thai HbVar.791 ethnic Indonesian HbVar.791 ethnic Japanese HbVar.791 ethnic Syria HbVar.791 ethnic Bahrein HbVar.791 phenoCommon beta0 thalassemia HbVar.792 protEffect HBB 105(G6) Arg>Trp HbVar.792 commonName Hb Sainte Eugenie HbVar.792 ethnic French HbVar.792 phenoCommon Hemoglobin variant HbVar.793 protEffect HBB 16(A12) Trp>Stop HbVar.793 commonName Codon 15 (G->A); TGG(Trp)->TGA(stop codon) beta0 HbVar.793 ethnic Portuguese HbVar.793 ethnic Russian HbVar.793 ethnic Japanese HbVar.793 phenoCommon beta0 thalassemia HbVar.793 phenoCommon severe Anemia HbVar.794 protEffect HBB 119(GH1) Phe>Cys HbVar.794 commonName Hb Harrow HbVar.794 ethnic Indian HbVar.794 phenoCommon Hemoglobin variant HbVar.795 protEffect HBB 37(C2) Pro>Ala HbVar.795 commonName Hb Brie Comte Robert HbVar.795 ethnic French HbVar.795 phenoCommon Hemoglobin variant HbVar.796 protEffect HBA1 56(E4) Val>Leu HbVar.796 commonName Hb Roubaix HbVar.796 alias Hb Poland HbVar.796 ethnic French Caucasian HbVar.796 ethnic Polish HbVar.796 phenoCommon Hemoglobin variant HbVar.797 protEffect HBB 122(GH 5) Phe>Leu HbVar.797 commonName Hb Bushey HbVar.797 ethnic Chinese HbVar.797 phenoCommon Hemoglobin variant HbVar.798 protEffect HBB 16 (-T); modified C-terminal sequence: (16)Gly-Ala-(18)Arg-COOH HbVar.798 commonName Codon 15 (-T); TGG(Trp)->-GG beta0 HbVar.798 ethnic Malay HbVar.798 phenoCommon beta0 thalassemia HbVar.799 protEffect HBB 17 (-C); modified C-terminal sequence: (17)Gly-(18)Arg-COOH HbVar.799 commonName Codon 16 (-C); GGC(Gly)->GG- beta0 HbVar.799 ethnic Azerbaijan HbVar.799 ethnic Pakistani HbVar.799 ethnic Punjabi HbVar.799 ethnic Pathan HbVar.799 ethnic Singapore HbVar.799 phenoCommon beta0 thalassemia HbVar.800 protEffect HBB 18(A14) Lys>Stop HbVar.800 commonName Codon 17 (A->T); AAG(Lys)->TAG(stop codon) beta0 HbVar.800 ethnic Thai HbVar.800 ethnic Malaysian HbVar.800 ethnic Singapore HbVar.800 ethnic Indonesian HbVar.800 ethnic Taiwanese HbVar.800 ethnic Chinese HbVar.800 ethnic Japanese HbVar.800 ethnic Korean HbVar.800 phenoCommon beta0 thalassemia HbVar.802 protEffect HBB 23(B4) Glu>Stop HbVar.802 commonName Codon 22 (G->T); GAA(Glu)->TAA(stop codon) beta0 HbVar.802 ethnic Reunion Island HbVar.802 phenoCommon beta0 thalassemia HbVar.803 protEffect HBB 22 - 25 (-AAGTTGG); modified C-terminal sequence HbVar.803 commonName Codons 22/23/24 (GAA GTT GGT; Glu Val Gly); deletion of -AAGTTGG beta0 HbVar.803 ethnic Turk HbVar.803 phenoCommon beta0 thalassemia HbVar.804 protEffect HBB 25 (-G); modified C-terminal sequence AND His- inserted between codons 24(B5) and 25(B6) of HBB HbVar.804 commonName Codon 24; GGT(Gly); (-G; +CAC) beta0 HbVar.804 ethnic Egyptian HbVar.804 phenoCommon beta0 thalassemia HbVar.805 protEffect HBB 25(B6) Gly>Gly HbVar.805 commonName Codon 24 (T->A); GGT(Gly)->GGA(Gly) beta+ HbVar.805 ethnic Japanese HbVar.805 ethnic Black HbVar.805 phenoCommon beta+ thalassemia HbVar.807 protEffect HBB 27(+T); modified C-terminal sequence: (27)stop codon HbVar.807 commonName Codons 25/26 (+T); GGT GAG(Gly-Glu)->GGT T GAG(Gly-Term) beta0 HbVar.807 ethnic Tunisian HbVar.807 phenoCommon beta0 thalassemia HbVar.808 protEffect HBB 27(B8) Glu>Stop HbVar.808 commonName Codon 26 (G->T); GAG(Glu)->TAG(stop codon) beta0 HbVar.808 ethnic Thai HbVar.808 phenoCommon beta0 thalassemia HbVar.809 protEffect HBB 27(+T); modified C-terminal sequence: (27)Val-Gly-Pro-Gly-Gln-Ala-Ala-Gly-Gly-Leu-
Pro-Leu-Asp-Pro-Glu-Val-Leu-(43)COOH HbVar.809 commonName Codon 26 (+T); GAG(Glu)->GTAG beta0 HbVar.809 ethnic Japanese HbVar.809 phenoCommon beta0 thalassemia HbVar.810 protEffect HBB 29(+C); modified C-terminal sequence HbVar.810 commonName Codons 27/28 (+C); GCC CTG(Ala Ser)->GCC C CTG beta0 HbVar.810 ethnic Thai HbVar.810 ethnic Singapore HbVar.810 ethnic Taiwanese HbVar.810 ethnic Chinese HbVar.810 phenoCommon beta0 thalassemia HbVar.811 protEffect HBB 29 (-C); modified C-terminal sequence HbVar.811 commonName Codon 28 (-C); CTG(Leu)->-TG beta0 HbVar.811 ethnic Egyptian HbVar.811 phenoCommon beta0 thalassemia HbVar.812 protEffect HBB 122(GH 5) Phe>Leu AND HBB 66(E9) Lys>Met HbVar.812 commonName Hb Casablanca HbVar.812 ethnic Moroccan HbVar.812 phenoCommon Hemoglobin variant HbVar.813 protEffect HBB 30 (-G); modified C-terminal sequence HbVar.813 commonName Codons 28/29 (-G); CTG GGC(Leu Gly)->CTG -GC beta0 HbVar.813 ethnic Japanese HbVar.813 ethnic Egyptian HbVar.813 phenoCommon beta0 thalassemia HbVar.814 protEffect HBB 30(B11) Gly>Gly HbVar.814 commonName IVS-I (-3) or codon 29 (C->T); GGC(Gly)->GGT(Gly) beta+ HbVar.814 ethnic Lebanese HbVar.814 phenoCommon beta+ thalassemia HbVar.815 protEffect HBB 31(B12) Arg>Gly HbVar.815 commonName IVS-I (-2) or codon 30 (A->G); AG^GTTGGT->GG^GTTGGT Probably beta0 HbVar.815 ethnic Sephardic Jewish HbVar.815 phenoCommon beta0 thalassemia HbVar.816 protEffect HBB 31(B12) Arg>Lys HbVar.816 commonName IVS-I (-1) or codon 30 (G->A) AG^GTTGGT->AA^GTTGGT beta0 HbVar.816 ethnic Oman HbVar.816 ethnic Tunisian HbVar.816 ethnic Algerian HbVar.816 ethnic Pakistani HbVar.816 ethnic Pathan HbVar.816 ethnic Bulgarian HbVar.816 phenoCommon beta0 thalassemia HbVar.817 commonName IVS-I-1 (G->A); AG^GTTGGT->AGATTGGT beta0 HbVar.817 ethnic Lebanese HbVar.817 ethnic Jordan HbVar.817 ethnic Israel HbVar.817 ethnic Kuwaiti HbVar.817 ethnic Oman HbVar.817 ethnic Egyptian HbVar.817 ethnic Tunisian HbVar.817 ethnic Algerian HbVar.817 ethnic Italian HbVar.817 ethnic Sardinian HbVar.817 ethnic Sicilian HbVar.817 ethnic Greek HbVar.817 ethnic Greek Cypriot HbVar.817 ethnic Turkish HbVar.817 ethnic Macedonian HbVar.817 ethnic Croatian HbVar.817 ethnic Bulgarian HbVar.817 ethnic Hungarian HbVar.817 ethnic Czechoslovakian HbVar.817 ethnic Azerbaijan HbVar.817 ethnic Russian HbVar.817 ethnic English HbVar.817 ethnic French HbVar.817 ethnic Portuguese HbVar.817 ethnic Spanish HbVar.817 ethnic Iranian HbVar.817 ethnic Pakistani HbVar.817 ethnic Maharashtran HbVar.817 ethnic Thai HbVar.817 ethnic Indonesian HbVar.817 ethnic Syria HbVar.817 ethnic Bahrein HbVar.817 ethnic Turkish Cypriots HbVar.817 ethnic Albania HbVar.817 ethnic Serbian HbVar.817 phenoCommon beta0 thalassemia HbVar.818 commonName IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT beta0 HbVar.818 ethnic Pakistani HbVar.818 ethnic Punjabi HbVar.818 ethnic Maharashtran HbVar.818 ethnic Pathan HbVar.818 ethnic Thai HbVar.818 ethnic Malaysian HbVar.818 ethnic Singapore HbVar.818 ethnic Indonesian HbVar.818 ethnic Taiwanese HbVar.818 ethnic Chinese HbVar.818 ethnic Japanese HbVar.818 ethnic Argentine HbVar.818 phenoCommon beta0 thalassemia HbVar.819 commonName IVS-I-2 (T->A); AG^GTTGGT->AGGATGGT beta0 HbVar.819 ethnic Tunisian HbVar.819 ethnic Algerian HbVar.819 ethnic Italian HbVar.819 ethnic Sicilian HbVar.819 phenoCommon beta0 thalassemia HbVar.820 commonName IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT beta0 HbVar.820 ethnic Algerian HbVar.820 ethnic Russian HbVar.820 ethnic Black HbVar.820 phenoCommon beta0 thalassemia HbVar.821 commonName IVS-I-2 (T->G); AG^GTTGGT->AGGGTGGT beta0 HbVar.821 ethnic Tunisian HbVar.821 phenoCommon beta0 thalassemia HbVar.822 commonName IVS-I-5 (G->A) beta+ (severe) HbVar.822 ethnic Tunisian HbVar.822 ethnic Algerian HbVar.822 ethnic Italian HbVar.822 ethnic Greek HbVar.822 ethnic Turkish HbVar.822 ethnic Spanish HbVar.822 phenoCommon beta+ thalassemia HbVar.823 commonName IVS-I-5 (G->A) plus the Corfu deletion (deltabeta-thal) beta+ HbVar.823 ethnic Greek HbVar.823 phenoCommon beta+ thalassemia HbVar.824 commonName IVS-I-5 (G->C) beta+ (severe) HbVar.824 ethnic Lebanese HbVar.824 ethnic Jordan HbVar.824 ethnic Israel HbVar.824 ethnic Saudi Arabian HbVar.824 ethnic Kuwaiti HbVar.824 ethnic United Arab Emirates HbVar.824 ethnic Oman HbVar.824 ethnic Algerian HbVar.824 ethnic Italian HbVar.824 ethnic Sicilian HbVar.824 ethnic Turkish HbVar.824 ethnic Azerbaijan HbVar.824 ethnic Iranian HbVar.824 ethnic Pakistani HbVar.824 ethnic Punjabi HbVar.824 ethnic Maharashtran HbVar.824 ethnic Bangladesh HbVar.824 ethnic Pathan HbVar.824 ethnic Thai HbVar.824 ethnic Malaysian HbVar.824 ethnic Singapore HbVar.824 ethnic Indonesian HbVar.824 ethnic Chinese HbVar.824 ethnic Bahrein HbVar.824 ethnic Albania HbVar.824 phenoCommon beta+ thalassemia HbVar.825 commonName IVS-I-5 (G->T) beta+ (severe) HbVar.825 ethnic Turkish HbVar.825 ethnic Azerbaijan HbVar.825 ethnic Black HbVar.825 ethnic Mediterranean HbVar.825 ethnic Northern European HbVar.825 phenoCommon beta+ thalassemia HbVar.826 commonName IVS-I-6 (T->C); the Portuguese type beta+ HbVar.826 ethnic Lebanese HbVar.826 ethnic Jordan HbVar.826 ethnic Israel HbVar.826 ethnic Kuwaiti HbVar.826 ethnic United Arab Emirates HbVar.826 ethnic Egyptian HbVar.826 ethnic Tunisian HbVar.826 ethnic Algerian HbVar.826 ethnic Italian HbVar.826 ethnic Sardinian HbVar.826 ethnic Sicilian HbVar.826 ethnic Greek HbVar.826 ethnic Greek Cypriot HbVar.826 ethnic Turkish HbVar.826 ethnic Macedonian HbVar.826 ethnic Croatian HbVar.826 ethnic Bulgarian HbVar.826 ethnic Hungarian HbVar.826 ethnic Azerbaijan HbVar.826 ethnic Russian HbVar.826 ethnic English HbVar.826 ethnic French HbVar.826 ethnic Portuguese HbVar.826 ethnic Spanish HbVar.826 ethnic Iranian HbVar.826 ethnic Argentine HbVar.826 ethnic Syria HbVar.826 ethnic Turkish Cypriots HbVar.826 ethnic Albania HbVar.826 ethnic Serbian HbVar.826 phenoCommon beta+ thalassemia HbVar.827 commonName IVS-I-110 (G->A) beta+; the mutation is 21 nucleotides 5' to the acceptor splice site AG^GC HbVar.827 ethnic Lebanese HbVar.827 ethnic Jordan HbVar.827 ethnic Israel HbVar.827 ethnic Saudi Arabian HbVar.827 ethnic United Arab Emirates HbVar.827 ethnic Oman HbVar.827 ethnic Egyptian HbVar.827 ethnic Tunisian HbVar.827 ethnic Algerian HbVar.827 ethnic Italian HbVar.827 ethnic Sardinian HbVar.827 ethnic Sicilian HbVar.827 ethnic Greek HbVar.827 ethnic Greek Cypriot HbVar.827 ethnic Turkish HbVar.827 ethnic Macedonian HbVar.827 ethnic Croatian HbVar.827 ethnic Bulgarian HbVar.827 ethnic Czechoslovakian HbVar.827 ethnic Azerbaijan HbVar.827 ethnic Russian HbVar.827 ethnic English HbVar.827 ethnic French HbVar.827 ethnic Portuguese HbVar.827 ethnic Spanish HbVar.827 ethnic Iranian HbVar.827 ethnic Yemenite HbVar.827 ethnic Argentine HbVar.827 ethnic Syria HbVar.827 ethnic Bahrein HbVar.827 ethnic Turkish Cypriots HbVar.827 ethnic Albania HbVar.827 ethnic Serbian HbVar.827 phenoCommon beta+ thalassemia HbVar.828 commonName IVS-I-116 (T->G) beta0; normal mRNA estimated at less than 1.0% HbVar.828 ethnic Italian HbVar.828 ethnic Sicilian HbVar.828 ethnic Turkish HbVar.828 ethnic Syria HbVar.828 phenoCommon beta0 thalassemia HbVar.829 commonName IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG beta+ HbVar.829 ethnic Azerbaijan HbVar.829 ethnic Punjabi HbVar.829 ethnic Taiwanese HbVar.829 ethnic Chinese HbVar.829 ethnic Saudi Arabian HbVar.829 phenoCommon beta+ thalassemia HbVar.830 commonName IVS-I-130 (G->A); TTAG^GCTG->TTAA GCTG beta0 HbVar.830 ethnic Korean HbVar.830 ethnic Egyptian HbVar.830 ethnic Turk HbVar.830 phenoCommon beta0 thalassemia HbVar.831 commonName IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG beta0 HbVar.831 ethnic Italian HbVar.831 ethnic Sicilian HbVar.831 ethnic Turkish HbVar.831 ethnic Russian HbVar.831 ethnic Portuguese HbVar.831 ethnic Japanese HbVar.831 ethnic Korean HbVar.831 phenoCommon beta0 thalassemia HbVar.832 protEffect HBA2 27(B7) Ala>Val HbVar.832 commonName Hb Campinas HbVar.832 ethnic Brazilian HbVar.832 phenoCommon Hemoglobin variant HbVar.833 protEffect HBB 31(B12) Arg>Ser HbVar.833 commonName Codon 30 (AGG->AGC) [IVS-I-130 (+1)] beta0 HbVar.833 ethnic Lebanese HbVar.833 ethnic United Arab Emirates HbVar.833 ethnic Italian HbVar.833 ethnic Sicilian HbVar.833 ethnic Bulgarian HbVar.833 ethnic Azerbaijan HbVar.833 ethnic Iranian HbVar.833 ethnic Pakistani HbVar.833 ethnic Punjabi HbVar.833 ethnic Maharashtran HbVar.833 ethnic Pathan HbVar.833 ethnic Indonesian HbVar.833 ethnic Black HbVar.833 phenoCommon beta0 thalassemia HbVar.834 commonName IVS-I, 3' end; -17 bp beta0 HbVar.834 ethnic Kuwaiti HbVar.834 phenoCommon beta0 thalassemia HbVar.835 protEffect HBB 32 (-C); modified C-terminal sequence: (32)Cys-Trp-Trp-Ser-Thr-Leu-Gly-Pro-Arg-Gly- Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu- Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.835 commonName Codon 31 (-C); CTG->-TG beta0 HbVar.835 ethnic Chinese HbVar.835 phenoCommon beta0 thalassemia HbVar.836 protEffect Arg- inserted between codons 31(B12) and 32(B13) of HBB HbVar.836 commonName Codons 31/32 (+CGG) beta0 (dominant beta0-thal) HbVar.836 ethnic Spanish HbVar.836 phenoCommon beta0 thalassemia HbVar.837 protEffect HBB 34(B15) Val->0 HbVar.837 commonName Codons 33/34 (-GTG); GTG GTC(Val*Val)->GTC - - -(Val) beta0 HbVar.837 ethnic Korean HbVar.837 phenoCommon beta0 thalassemia HbVar.838 protEffect HBB 36(C1) Tyr>Stop HbVar.838 commonName Codon 35 (C->A); TAC->TAA (Tyr->Term codon) beta0 HbVar.838 ethnic Thai HbVar.838 ethnic Japanese HbVar.838 phenoCommon beta0 thalassemia HbVar.839 protEffect HBB 36 (-C); modified C-terminal sequence: (36)Tyr-Leu-Gly-Pro-Arg-Gly-Ser-Leu-Ser-Pro- Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu- Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.839 commonName Codon 35 (-C); TAC(Tyr)->TA- beta0 HbVar.839 ethnic Italian HbVar.839 ethnic Singapore HbVar.839 ethnic Indonesian HbVar.839 ethnic Bahrein HbVar.839 ethnic Malay HbVar.839 phenoCommon beta0 thalassemia HbVar.840 protEffect HBB 38 (-T); modified C-terminal sequence: (38)Gly-Pro-Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly- Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala- Thr-Leu-(60)Arg-COOH HbVar.840 commonName Codons 36/37 (-T); CCT TGG(Pro-Trp)->CCT -GG beta0 HbVar.840 ethnic United Arab Emirates HbVar.840 ethnic Oman HbVar.840 ethnic Bulgarian HbVar.840 ethnic Azerbaijan HbVar.840 ethnic Iranian HbVar.840 phenoCommon beta0 thalassemia HbVar.841 protEffect HBB 38(C3) Trp>Stop HbVar.841 commonName Codon 37 (G->A); TGG(Trp)->TGA(stop codon) beta0 HbVar.841 ethnic Jordan HbVar.841 ethnic Israel HbVar.841 ethnic United Arab Emirates HbVar.841 ethnic Egyptian HbVar.841 ethnic Croatian HbVar.841 ethnic Syria HbVar.841 ethnic Albania HbVar.841 phenoCommon beta0 thalassemia HbVar.842 commonName Codons 37/38/39 (-7 nts) beta0 HbVar.842 ethnic Turk HbVar.842 phenoCommon beta0 thalassemia HbVar.843 protEffect HBB 40 (-C); modified C-terminal sequence: (40)Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys- Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu- (60)Arg-COOH HbVar.843 commonName Codons 38/39 (-C); ACC CAG(Thr Gln)->ACC -AG beta0 HbVar.843 ethnic Czechoslovakian HbVar.843 phenoCommon beta0 thalassemia HbVar.844 protEffect HBB 39 (-CC); modified C-terminal sequence: (39)Thr-Glu-Val-(42)Leu-COOH HbVar.844 commonName Codons 38/39 (-CC); ACC CAG(Thr-Glu)->A- - CAG beta0 HbVar.844 ethnic Belgian HbVar.844 phenoCommon beta0 thalassemia HbVar.845 protEffect HBB 40(C5) Gln>Stop HbVar.845 commonName Codon 39 (C->T); CAG(Gln)->TAG(stop codon) beta0 HbVar.845 ethnic Lebanese HbVar.845 ethnic Jordan HbVar.845 ethnic Israel HbVar.845 ethnic Saudi Arabian HbVar.845 ethnic Kuwaiti HbVar.845 ethnic United Arab Emirates HbVar.845 ethnic Oman HbVar.845 ethnic Egyptian HbVar.845 ethnic Tunisian HbVar.845 ethnic Algerian HbVar.845 ethnic Italian HbVar.845 ethnic Sardinian HbVar.845 ethnic Sicilian HbVar.845 ethnic Greek HbVar.845 ethnic Greek Cypriot HbVar.845 ethnic Turkish HbVar.845 ethnic Macedonian HbVar.845 ethnic Croatian HbVar.845 ethnic Bulgarian HbVar.845 ethnic Hungarian HbVar.845 ethnic Czechoslovakian HbVar.845 ethnic Azerbaijan HbVar.845 ethnic English HbVar.845 ethnic French HbVar.845 ethnic Portuguese HbVar.845 ethnic Spanish HbVar.845 ethnic Iranian HbVar.845 ethnic Pakistani HbVar.845 ethnic Pathan HbVar.845 ethnic Japanese HbVar.845 ethnic Argentine HbVar.845 ethnic Syria HbVar.845 ethnic Bahrein HbVar.845 ethnic Turkish Cypriots HbVar.845 ethnic Albania HbVar.845 ethnic Serbian HbVar.845 phenoCommon beta0 thalassemia HbVar.846 protEffect HBB 41 (-G); modified C-terminal sequence: (41)Ser-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro- Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.846 commonName Codon 40 (-G); AGG(Arg)->AG- beta0 HbVar.846 ethnic Japanese HbVar.846 phenoCommon beta0 thalassemia HbVar.847 protEffect HBB 42(+T); modified C-terminal sequence: (42)Phe-(43)Leu-COOH HbVar.847 commonName Codons 40/41 (+T); AGG TTC(Arg-Phe)->AGG T TTC beta0 HbVar.847 ethnic Chinese HbVar.847 phenoCommon beta0 thalassemia HbVar.848 protEffect HBB 42 (-C); modified C-terminal sequence: (42)Phe-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu- Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.848 commonName Codon 41 (-C); TTC(Phe)->TT- beta0 HbVar.848 ethnic Thai HbVar.848 phenoCommon beta0 thalassemia HbVar.849 protEffect HBB 41 - 43 (-TTCT); modified C-terminal sequence HbVar.849 commonName Codons 41/42 (-TTCT); TTCTTT(Phe-Phe)->- - - -TT beta0 HbVar.849 ethnic English HbVar.849 ethnic Pakistani HbVar.849 ethnic Punjabi HbVar.849 ethnic Thai HbVar.849 ethnic Malaysian HbVar.849 ethnic Singapore HbVar.849 ethnic Indonesian HbVar.849 ethnic Taiwanese HbVar.849 ethnic Chinese HbVar.849 ethnic Japanese HbVar.849 ethnic Korean HbVar.849 phenoCommon beta0 thalassemia HbVar.850 protEffect HBB 44(+G); modified C-terminal sequence: (44)Gly-Val-Leu-Trp-Gly-Ser-Val- His-(52)Ser-COOH HbVar.850 commonName Codons 42/43 (+G); TTT GAG(Phe Glu)->TTT G GAG beta0 HbVar.850 ethnic Japanese HbVar.850 phenoCommon beta0 thalassemia HbVar.851 protEffect HBB 44(+T); modified C-terminal sequence: (44)stop codon HbVar.851 commonName Codons 42/43 (+T) TTT GAG(Phe Glu)->TTT TGA G(Phe;stop codon) beta0 HbVar.851 ethnic Japanese HbVar.851 phenoCommon beta0 thalassemia HbVar.852 protEffect HBG2 20(B1) Asn>Lys HbVar.852 commonName Hb F-Ouled Rabah HbVar.852 ethnic Algerian HbVar.852 ethnic Moroccan HbVar.852 phenoCommon Hemoglobin variant HbVar.853 protEffect HBB 44(CD2) Glu>Stop HbVar.853 commonName Codon 43 (G->T); GAG(Glu)->TAG (stop codon) beta0 HbVar.853 ethnic Thai HbVar.853 ethnic Singapore HbVar.853 ethnic Chinese HbVar.853 phenoCommon beta0 thalassemia HbVar.854 protEffect HBB 45 (-C); modified C-terminal sequence: (45)Ser-Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu- Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.854 commonName Codon 44 (-C); TCC(Ser)->TC- beta0 HbVar.854 ethnic Lebanese HbVar.854 ethnic Kuwaiti HbVar.854 ethnic United Arab Emirates HbVar.854 ethnic Oman HbVar.854 ethnic Tunisian HbVar.854 ethnic Italian HbVar.854 ethnic Bulgarian HbVar.854 ethnic Azerbaijan HbVar.854 ethnic Iranian HbVar.854 ethnic Bahrein HbVar.854 ethnic Albania HbVar.854 phenoCommon beta0 thalassemia HbVar.855 protEffect HBB 46 (-T); modified C-terminal sequence: (46)Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu- Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.855 commonName Codon 45 (-T); TTT(Phe)->-TT beta0 HbVar.855 ethnic Pakistani HbVar.855 phenoCommon beta0 thalassemia HbVar.856 protEffect HBB 48(+A); modified C-terminal sequence: (48)Glu-Ser-Val- His-(52)Ser-COOH HbVar.856 commonName Codon 47 (+A); GAT(Asp)->GAA(Glu) T beta0 HbVar.856 ethnic Surinam HbVar.856 phenoCommon beta0 thalassemia HbVar.857 protEffect HBB 49(+ATCT); modified C-terminal sequence: (49)Leu-Ser-Val-His-(53)Ser-COOH HbVar.857 commonName Codons 47/48 (+ATCT); GAT CTG(Asp Leu)->GAT CTATCTG beta0 HbVar.857 ethnic Pakistani HbVar.857 ethnic Punjabi HbVar.857 ethnic Maharashtran HbVar.857 ethnic Sikh HbVar.857 phenoCommon beta0 thalassemia HbVar.858 protEffect HBB 52 (-C); modified C-terminal sequence: (52)Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.858 commonName Codon 51 (-C); CCT(Pro)->-CT beta0 HbVar.858 ethnic Hungarian HbVar.858 phenoCommon beta0 thalassemia HbVar.860 protEffect HBB 55(+G); modified C-terminal sequence: (55)Gly-Tyr-Gly-Gln-(59)Pro-COOH HbVar.860 commonName 53/54 (+G); GCT GTT(Ala-Val)->GCT G GTT beta0 HbVar.860 ethnic Japanese HbVar.860 phenoCommon beta0 thalassemia HbVar.861 protEffect HBB 55 (-T); modified C-terminal sequence: (55)Val-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.861 commonName Codon 54 (-T); GTT(Val)->GT- beta0 HbVar.861 ethnic Algerian HbVar.861 ethnic Swedish HbVar.861 phenoCommon beta0 thalassemia HbVar.862 protEffect HBB 56(+A); modified C-terminal sequence: (56)Asn-Gly-Gln-(59)Pro-COOH HbVar.862 commonName Codons 54/55 (+A); GTT ATG(Val Met)->GTT A ATG beta0 HbVar.862 ethnic Maharashtran HbVar.862 phenoCommon beta0 thalassemia HbVar.863 commonName Codons 56/57/58/59/60 (GGC AAC CCT AAG GTG); duplication of 14 bp beta0 HbVar.863 phenoCommon beta0 thalassemia HbVar.864 protEffect HBB 59(+C); modified C-terminal sequence: (59)Pro-COOH HbVar.864 commonName Codons 57/58 (+C); AAC CCT(Asn Pro)->AAC C CCT beta0 HbVar.864 ethnic Sikh HbVar.864 phenoCommon beta0 thalassemia HbVar.865 protEffect HBB 60 (-A); modified C-terminal sequence: (60)Arg-COOH HbVar.865 commonName Codon 59 (-A); AAG(Lys)->-AG beta0 HbVar.865 ethnic Italian HbVar.865 phenoCommon beta0 thalassemia HbVar.866 protEffect HBB 62(E5) Lys>Stop HbVar.866 commonName Codon 61 (A->T); AAG(Lys)->TAG(stop codon) beta0 HbVar.866 ethnic Black HbVar.866 phenoCommon beta0 thalassemia HbVar.867 protEffect HBB 65 (-G); modified C-terminal sequence: (65)Ala-Arg-Lys-Cys-Ser-Val-Pro-Leu-Val-Met- Ala-Trp-Leu-Thr-Trp-Thr-Thr-Ser-Arg-Ala- Pro-Leu-Pro-(88)His-COOH HbVar.867 commonName Codon 64 (-G); GGC(Gly)->-GC beta0 HbVar.867 ethnic Swiss HbVar.867 phenoCommon beta0 thalassemia HbVar.868 protEffect HBB 68 (-GT); modified C-terminal sequence: (68)Ala-Arg-Cys-(71)Leu-COOH HbVar.868 commonName Codon 67 (-TG); GTG(Val)->--G beta0 HbVar.868 ethnic Filipino HbVar.868 phenoCommon beta0 thalassemia HbVar.869 protEffect HBB 73(+A); modified C-terminal sequence: (73)Lys-COOH HbVar.869 commonName Codons 71/72 (+A); TTT AGT(Phe Ser)->TTT A AGT; beta0 HbVar.869 ethnic Chinese HbVar.869 ethnic East Asian HbVar.869 phenoCommon beta0 thalassemia HbVar.870 protEffect HBB 73(+T); modified C-terminal sequence: (73)stop codon HbVar.870 commonName Codons 71/72 (+T); TTT AGT(Phe Ser)->TTT T AGT beta0 HbVar.870 ethnic Thai HbVar.870 ethnic Malaysian HbVar.870 ethnic Taiwanese HbVar.870 ethnic Chinese HbVar.870 phenoCommon beta0 thalassemia HbVar.871 protEffect HBB 72 - 74 (-AGTGA); modified C-terminal sequence AND HBB 73(+T); modified C-terminal sequence HbVar.871 commonName Codons 72/73; -AGTGA, +T; AGT GAT(Ser-Asp)->---- TT beta0 HbVar.871 ethnic British HbVar.871 phenoCommon beta0 thalassemia HbVar.872 protEffect HBG2 18(A14) Lys>Asn HbVar.872 commonName Hb F-Clamart HbVar.872 ethnic French HbVar.872 phenoCommon Hemoglobin variant HbVar.873 protEffect HBB 75 (-C); modified C-terminal sequence: (75)Gly-Trp-Leu-Thr-Trp-Thr-Thr-Ser-Arg-Ala- Pro-Leu-Pro-(88)His-COOH HbVar.873 commonName Codons 74/75 (-C); GGC CTG(Gly Leu)->GG- CTG beta0 HbVar.873 ethnic Turk HbVar.873 phenoCommon beta0 thalassemia HbVar.873 phenoCommon severe Anemia HbVar.874 protEffect HBB 77 (-C); modified C-terminal sequence: (77)Val-Thr-Trp-Thr-Thr-Ser-Arg-Ala-Pro-Leu- Pro-(88)His-COOH HbVar.874 commonName Codon 76 (-C); GCT(Ala)->G-T beta0 HbVar.874 ethnic Italian HbVar.874 ethnic Sardinian HbVar.874 ethnic Sicilian HbVar.874 phenoCommon beta0 thalassemia HbVar.875 protEffect HBB 84 (-G); modified C-terminal sequence: (84)Ala-Pro-Leu-Pro-(88)His-COOH HbVar.875 commonName Codons 82/83 (-G); AAG GGC(Lys Gly)->AAG -GC beta0 HbVar.875 ethnic United Arab Emirates HbVar.875 ethnic Croatian HbVar.875 ethnic Czechoslovakian HbVar.875 ethnic Azerbaijan HbVar.875 phenoCommon beta0 thalassemia HbVar.876 protEffect HBB 86(+C); modified C-terminal sequence: (86)Leu-Cys-His-Thr-(90)Glu-COOH HbVar.876 commonName Codons 84/85 (+C); ACC TTT(Thr Phe)->ACC C TTT beta0 HbVar.876 ethnic Japanese HbVar.876 phenoCommon beta0 thalassemia HbVar.877 protEffect HBB 87(+T); modified C-terminal sequence: (87)Cys-His-Thr-(90)Glu-COOH HbVar.877 commonName Codons 84/85/86 (+T); ACC TTT GCC(Thr Phe Ala)->ACC TTT T GCC beta0 HbVar.877 ethnic Japanese HbVar.877 phenoCommon beta0 thalassemia HbVar.878 protEffect HBB 89(+T); modified C-terminal sequence: (89)Leu-(90)Glu-COOH HbVar.878 commonName Codon 88 (+T); CTG(Leu)->CTTG beta0 HbVar.878 ethnic Asian HbVar.878 phenoCommon beta0 thalassemia HbVar.879 protEffect HBB 90 (-GT); modified C-terminal sequence: (90)Arg-Ala-Ala-(93)Leu-COOH HbVar.879 commonName Codons 89/90 (-GT); AGT GAG(Ser Glu)->A-- GAG beta0 HbVar.879 ethnic Korean HbVar.879 phenoCommon beta0 thalassemia HbVar.880 protEffect HBB 91(F6) Glu>Stop HbVar.880 commonName Codon 90 (G->T); GAG(Glu)->TAG(stop codon) beta0 HbVar.880 ethnic Japanese HbVar.880 phenoCommon beta0 thalassemia HbVar.881 protEffect HBB 95(+TG); modified C-terminal sequence HbVar.881 commonName Hb Agnana HbVar.881 alias Codon 94 (+TG); GAC(Asp)->GTGAC Thalassemia intermedia HbVar.881 ethnic Italian HbVar.881 phenoCommon beta0 thalassemia HbVar.882 protEffect HBB 96(+A); modified C-terminal sequence: (96)Lys-Ala-Ala-Arg-Gly-Ser-(101)COOH HbVar.882 commonName Codon 95 (+A); AAG(Lys)->AAAG beta0 HbVar.882 ethnic Thai HbVar.882 ethnic French HbVar.882 phenoCommon beta0 thalassemia HbVar.883 protEffect HBB 101(G2) Pro->0 AND HBB 101(+TCTGAGAACTT); modified C-terminal sequence HbVar.883 commonName Codon 100; -CTT, +TCTGAGAACTT beta0 (dominant type) HbVar.883 ethnic South African HbVar.883 phenoCommon beta0 thalassemia HbVar.884 commonName IVS-II-1 (G->A); beta0 HbVar.884 ethnic Lebanese HbVar.884 ethnic Jordan HbVar.884 ethnic Israel HbVar.884 ethnic Saudi Arabian HbVar.884 ethnic Kuwaiti HbVar.884 ethnic United Arab Emirates HbVar.884 ethnic Oman HbVar.884 ethnic Egyptian HbVar.884 ethnic Italian HbVar.884 ethnic Sardinian HbVar.884 ethnic Sicilian HbVar.884 ethnic Greek HbVar.884 ethnic Turkish HbVar.884 ethnic Macedonian HbVar.884 ethnic Croatian HbVar.884 ethnic Bulgarian HbVar.884 ethnic Hungarian HbVar.884 ethnic Czechoslovakian HbVar.884 ethnic Azerbaijan HbVar.884 ethnic Russian HbVar.884 ethnic French HbVar.884 ethnic Yemenite HbVar.884 ethnic Pakistani HbVar.884 ethnic Punjabi HbVar.884 ethnic Pathan HbVar.884 ethnic Japanese HbVar.884 ethnic Korean HbVar.884 ethnic Black HbVar.884 ethnic Argentine HbVar.884 ethnic Syria HbVar.884 ethnic Bahrein HbVar.884 ethnic Albania HbVar.884 ethnic Serbian HbVar.884 ethnic Iranian HbVar.884 phenoCommon beta0 thalassemia HbVar.885 commonName IVS-II-1 (G->C); beta0 HbVar.885 ethnic Iranian HbVar.885 phenoCommon beta0 thalassemia HbVar.886 commonName IVS-II-2,3 (+11, -2); beta0 HbVar.886 ethnic Iranian HbVar.886 phenoCommon beta0 thalassemia HbVar.887 commonName IVS-II-4,5 (-AG); beta (0 or + unclear) HbVar.887 ethnic Portuguese HbVar.887 phenoCommon beta (0 or + unclear) thalassemia HbVar.888 commonName IVS-II-5 (G->C) beta+ (severe) HbVar.888 ethnic Chinese HbVar.888 phenoCommon beta+ thalassemia HbVar.889 commonName IVS-II-654 (C->T); AAGGCAATA->AAG^GTAATA beta+ (severe) HbVar.889 ethnic Russian HbVar.889 ethnic Thai HbVar.889 ethnic Malaysian HbVar.889 ethnic Singapore HbVar.889 ethnic Indonesian HbVar.889 ethnic Taiwanese HbVar.889 ethnic Chinese HbVar.889 ethnic Japanese HbVar.889 phenoCommon beta+ thalassemia HbVar.890 commonName IVS-II-705 (T->G); GATGTAAGA->GAG^GTAAGA beta+ HbVar.890 ethnic Mediterranean HbVar.890 phenoCommon beta+ thalassemia HbVar.891 commonName IVS-II-745 (C->G); CAGCTACCAT->CAG^GTACCAT beta+ HbVar.891 ethnic Lebanese HbVar.891 ethnic Jordan HbVar.891 ethnic Israel HbVar.891 ethnic Egyptian HbVar.891 ethnic Tunisian HbVar.891 ethnic Algerian HbVar.891 ethnic Italian HbVar.891 ethnic Sardinian HbVar.891 ethnic Sicilian HbVar.891 ethnic Greek HbVar.891 ethnic Greek Cypriot HbVar.891 ethnic Turkish HbVar.891 ethnic Macedonian HbVar.891 ethnic Croatian HbVar.891 ethnic Bulgarian HbVar.891 ethnic Hungarian HbVar.891 ethnic Czechoslovakian HbVar.891 ethnic Azerbaijan HbVar.891 ethnic French HbVar.891 ethnic Portuguese HbVar.891 ethnic Spanish HbVar.891 ethnic Iranian HbVar.891 ethnic Argentine HbVar.891 ethnic Syria HbVar.891 ethnic Turkish Cypriots HbVar.891 ethnic Albania HbVar.891 phenoCommon beta+ thalassemia HbVar.892 protEffect HBG2 119(GH1) Phe>Leu HbVar.892 commonName Hb F-Calabria HbVar.892 ethnic Italian HbVar.892 phenoCommon Hemoglobin variant HbVar.893 protEffect HBB 85(EF8) Thr>Ala HbVar.893 commonName Hb Saale HbVar.893 ethnic German HbVar.893 phenoCommon Hemoglobin variant HbVar.894 protEffect HBA2 59(E7) His>Gln HbVar.894 commonName Hb Boghe HbVar.894 phenoCommon Hemoglobin variant HbVar.895 commonName IVS-II-837 (T->G); beta+ or beta0 HbVar.895 ethnic Asian Indian HbVar.895 phenoCommon beta (0 or + unclear) thalassemia HbVar.896 protEffect HBA1 104(G10) His>Tyr HbVar.896 commonName Hb Charolles HbVar.896 ethnic Sardinian HbVar.896 phenoCommon Hemoglobin variant HbVar.897 commonName IVS-II-843 (T->G); beta+ HbVar.897 ethnic Algerian HbVar.897 phenoCommon beta+ thalassemia HbVar.898 commonName IVS-II-844 (C->G); beta+ HbVar.898 ethnic Italian HbVar.898 phenoCommon beta+ thalassemia HbVar.899 protEffect HBB 147(HC3) His>Tyr HbVar.899 commonName Hb Bologna-St.Orsola HbVar.899 alias Hb Hallamshire HbVar.899 ethnic Anglo-Celtic HbVar.899 ethnic Italian HbVar.899 phenoCommon Hemoglobin variant HbVar.900 protEffect HBA2 78(EF6) Pro>His HbVar.900 commonName Hb Toulon HbVar.900 ethnic French HbVar.900 phenoCommon Hemoglobin variant HbVar.901 commonName IVS-II-848 (C->A); beta+ HbVar.901 ethnic Jordan HbVar.901 ethnic United Arab Emirates HbVar.901 ethnic Egyptian HbVar.901 ethnic Tunisian HbVar.901 ethnic Algerian HbVar.901 ethnic Greek HbVar.901 ethnic Black HbVar.901 phenoCommon beta+ thalassemia HbVar.902 protEffect Ser-Asp-Leu- inserted between codons 87(F7) and 88(F8) of HBA1 or HBA2 HbVar.902 commonName Hb Neuilly-sur-Marne HbVar.902 ethnic French HbVar.902 phenoCommon Hemoglobin variant HbVar.903 protEffect HBB 109(G10) Asn>Ile HbVar.903 commonName Hb Schlierbach HbVar.903 ethnic Chinese HbVar.903 ethnic Swiss HbVar.903 phenoCommon Hemoglobin variant HbVar.904 protEffect HBB 140(H17) Asn>Thr HbVar.904 commonName Hb Sagami HbVar.904 ethnic Japanese HbVar.904 phenoCommon Hemoglobin variant HbVar.905 protEffect HBA1 38(C2) Pro->0 HbVar.905 commonName Hb Heraklion HbVar.905 ethnic Cretan HbVar.905 phenoCommon Thalassemia HbVar.906 protEffect HBA1 63(E11) Val->0 HbVar.906 commonName Hb Aghia Sophia HbVar.906 ethnic Greek HbVar.906 phenoCommon Thalassemia HbVar.907 protEffect HBB 34(B15) - 36(C1) Val-Val-Tyr->0 AND inserted Asp HbVar.907 commonName Hb Dresden HbVar.907 ethnic German HbVar.907 phenoCommon Hemoglobin variant HbVar.908 protEffect HBB 124(H1) Thr>Asn HbVar.908 commonName Hb Ernz HbVar.908 ethnic Italian HbVar.908 phenoCommon Hemoglobin variant HbVar.909 protEffect HBB 134(H11) Val>Ala HbVar.909 commonName Hb Renert HbVar.909 ethnic Jamaican HbVar.909 phenoCommon Hemoglobin variant HbVar.910 protEffect HBA1 or HBA2 21(B1) His>Pro HbVar.910 commonName Hb Anderlecht HbVar.910 ethnic Congolese HbVar.910 phenoCommon Hemoglobin variant HbVar.911 protEffect HBA2 21(B1) His>Asp HbVar.911 commonName Hb Nikaia HbVar.911 ethnic French Caucasian HbVar.911 phenoCommon Hemoglobin variant HbVar.912 protEffect HBA2 91(FG2) Lys>Arg HbVar.912 commonName Hb Clinico-Madrid HbVar.912 ethnic Spanish HbVar.912 phenoCommon Hemoglobin variant HbVar.913 protEffect HBB 2(NA1) Val>Gly HbVar.913 commonName Hb Watford HbVar.913 ethnic Ashkenazi Jews HbVar.913 phenoCommon Hemoglobin variant HbVar.914 protEffect HBA2 10(A7) Asn>Lys HbVar.914 commonName Hb Park Ridge HbVar.914 ethnic Caucasian HbVar.914 phenoCommon Hemoglobin variant HbVar.915 protEffect HBA1 or HBA2 47(CE4) Phe>Leu OR HBA2 or HBA2 47(CE4) Phe>Leu HbVar.915 commonName Hb Rockaway HbVar.915 ethnic African-American HbVar.915 phenoCommon Hemoglobin variant HbVar.916 protEffect HBA2 67(E15) Leu>Pro HbVar.916 commonName Hb Dartmouth HbVar.916 ethnic Irish HbVar.916 ethnic Scottish HbVar.916 phenoCommon Hemoglobin variant HbVar.917 protEffect HBA2 73(EF1) His>Asp HbVar.917 commonName Hb Norton HbVar.917 ethnic Caucasian HbVar.917 phenoCommon Hemoglobin variant HbVar.918 protEffect HBA1 or HBA2 88(F8) His>Pro HbVar.918 commonName Hb Grifton HbVar.918 ethnic African-American HbVar.918 phenoCommon Hemoglobin variant HbVar.919 protEffect HBA1 90(FG1) His>Gln HbVar.919 commonName Hb Buffalo HbVar.919 alias Hb Reeuwijk HbVar.919 ethnic Arabian HbVar.919 phenoCommon Hemoglobin variant HbVar.920 protEffect HBA1 96(G2) Pro>Gln HbVar.920 commonName Hb Wichita HbVar.920 phenoCommon Hemoglobin variant HbVar.921 protEffect HBA2 104(G10) His>Tyr HbVar.921 commonName Hb Lombard HbVar.921 ethnic Italian HbVar.921 phenoCommon Hemoglobin variant HbVar.922 protEffect HBA2 114(GH1) Leu>Arg HbVar.922 commonName Hb San Antonio HbVar.922 ethnic Caucasian HbVar.922 phenoCommon Hemoglobin variant HbVar.923 protEffect HBA2 124(H6) Ala>Thr HbVar.923 commonName Hb Santa Barnabas HbVar.923 alias Hb Croxley Green HbVar.923 ethnic English HbVar.923 phenoCommon Hemoglobin variant HbVar.924 protEffect HBA1 or HBA2 85(F5) Ser>Gly HbVar.924 commonName Hb Wembley HbVar.924 ethnic West Indian HbVar.924 phenoCommon Hemoglobin variant HbVar.925 protEffect HBB 22(B3) Asp>Val HbVar.925 commonName Hb Rocky Mountain HbVar.925 alias Hb Paddington HbVar.925 ethnic Arabian HbVar.925 phenoCommon Hemoglobin variant HbVar.926 protEffect HBB 40(C5) Gln>His HbVar.926 commonName Hb San Bruno HbVar.926 ethnic African-American HbVar.926 phenoCommon Hemoglobin variant HbVar.927 protEffect HBB 98(FG4) His>Asn HbVar.927 commonName Hb Santa Clara HbVar.927 ethnic Mexican HbVar.927 phenoCommon Hemoglobin variant HbVar.928 protEffect HBB 109(G10) Asn>Ser HbVar.928 commonName Hb Santa Juana HbVar.928 alias Hb Serres HbVar.928 ethnic Greek HbVar.928 ethnic Mexican HbVar.928 phenoCommon Hemoglobin variant HbVar.929 protEffect HBB 143(H20) Ala>Thr HbVar.929 commonName Hb Inglewood HbVar.929 ethnic African-American HbVar.929 phenoCommon Hemoglobin variant HbVar.930 protEffect HBA1 127(H9) Asp>Glu HbVar.930 commonName Hb Burlington HbVar.930 ethnic Italian HbVar.930 phenoCommon Hemoglobin variant HbVar.931 protEffect HBB 135(H12) Val>Ala HbVar.931 commonName Hb Yaounde HbVar.931 alias Hb Mataro HbVar.931 ethnic Cameroonian HbVar.931 ethnic Portuguese HbVar.931 phenoCommon Hemoglobin variant HbVar.932 protEffect HBB 101(G2) Pro>Ala HbVar.932 commonName Hb Nice HbVar.932 ethnic Mediterranean HbVar.932 phenoCommon Hemoglobin variant HbVar.935 protEffect HBB 48(CD6) Asp>Val HbVar.935 commonName Hb Muravera HbVar.935 ethnic Sardinian HbVar.935 phenoCommon Hemoglobin variant HbVar.936 protEffect HBA1 62(E10) Lys->0 HbVar.936 commonName Hb Clinic HbVar.936 ethnic Spanish HbVar.936 phenoCommon Thalassemia HbVar.937 protEffect HBA2 113(G19) His>Gln AND HBA2 114(GH1) - 117(GH4) Leu-Pro-Ala-Glu->0 HbVar.937 commonName Hb Lleida HbVar.937 alias Codons 112-116 deletion of 12 nts of the alpha2 gene; alpha-Thal-2 HbVar.937 ethnic Spanish HbVar.937 phenoCommon alpha-2 thalassemia HbVar.938 commonName IVS-II-848 (C->G); beta+ HbVar.938 ethnic Macedonian HbVar.938 ethnic Croatian HbVar.938 ethnic Japanese HbVar.938 phenoCommon beta+ thalassemia HbVar.939 commonName IVS-II-849 (A->C); beta0 HbVar.939 ethnic Black HbVar.939 phenoCommon beta0 thalassemia HbVar.940 commonName IVS-II-849 (A->G); beta0 HbVar.940 ethnic Black HbVar.940 phenoCommon beta0 thalassemia HbVar.941 commonName IVS-II-850 (-G); beta0 HbVar.941 ethnic Italian HbVar.941 phenoCommon beta0 thalassemia HbVar.942 commonName IVS-II-850 (G->A); beta0 HbVar.942 ethnic Northern European HbVar.942 phenoCommon beta0 thalassemia HbVar.943 commonName IVS-II-850 (G->C); beta0 HbVar.943 ethnic Croatian HbVar.943 phenoCommon beta0 thalassemia HbVar.944 commonName IVS-II-850 (G->T); beta0 HbVar.944 ethnic Japanese HbVar.944 phenoCommon beta0 thalassemia HbVar.945 protEffect HBB 108(+G); modified C-terminal sequence: (108)Gly-Gln-Arg- Ala-Gly-Leu-Cys-Ala-Gly-Pro-Ser-Leu-Trp- Gln-Arg-Ile-His-Pro-Thr-Ser-Ala-Gly-Cys- Leu-Ser-Glu-Ser-Gly-Gly-Trp-Cys-(139)Gly-COOH HbVar.945 commonName Codons 106/107 (+G); CTG GGC(Leu Gly)->CTG G GC beta0 HbVar.945 ethnic Egyptian HbVar.945 ethnic Black HbVar.945 phenoCommon beta0 thalassemia HbVar.946 protEffect HBB 109(G10) - 113(G14) Asn-Val-Leu-Val-Cys->0 AND inserted Ser HbVar.946 commonName Codons 108/109/110/111/112 (-12 bp); beta0 HbVar.946 ethnic Swedish HbVar.946 phenoCommon beta0 thalassemia HbVar.947 protEffect HBB 110 (-G); modified C-terminal sequence: (110)Cys-Trp-Ser-Val-Cys-Trp-Pro-Ile-Thr-Leu- Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg-Leu- Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp-Leu- Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH HbVar.947 commonName Hb Manhattan HbVar.947 alias Codon 109 (-G); GTG(Val)->-TG beta0 HbVar.947 ethnic Lithuanian Ashkenazi HbVar.947 phenoCommon beta0 thalassemia HbVar.948 protEffect HBB 113(G14) Cys>Stop HbVar.948 commonName Codon 112 (T->A); TGT(Cys)->TGA(stop codon) beta0 HbVar.948 ethnic Slovakian HbVar.948 phenoCommon beta0 thalassemia HbVar.949 protEffect HBB 115 (-CT); modified C-terminal sequence AND HBB 115(+G); modified C-terminal sequence HbVar.949 commonName Hb Geneva HbVar.949 alias Codon 114 (-CT; +G); CTG(Leu)->-GG beta0 (dominant beta-thal trait) HbVar.949 ethnic Swiss HbVar.949 phenoCommon beta0 thalassemia HbVar.950 protEffect HBB 122(+A); modified C-terminal sequence: (122)Arg-Ile-His-Pro-Thr-Ser-Ala-Gly-Cys- Leu-Ser-Glu-Ser-Gly-Gly-Trp-Cys-(139)Gly-COOH HbVar.950 commonName Codons 120/121 (+A); AAA GAA(Lys-Glu)->AAA A GAA beta0 (mild dominant type of beta-thal) HbVar.950 ethnic Filipino HbVar.950 phenoCommon beta0 thalassemia HbVar.951 protEffect HBB 122(GH4) Glu>Stop HbVar.951 commonName Codon 121 (G->T); GAA(Glu)->TAA(stop codon) beta0 (dominant beta-thal trait) HbVar.951 ethnic Czechoslovakian HbVar.951 ethnic English HbVar.951 ethnic Japanese HbVar.951 ethnic Korean HbVar.951 ethnic Greek Cypriot HbVar.951 phenoCommon beta0 thalassemia HbVar.952 protEffect HBB 124 (-A); modified C-terminal sequence: (124)Pro-His-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys- Trp-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro- Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(157)Tyr-COOH HbVar.952 commonName Hb Makabe HbVar.952 alias Codon 123 (-A); ACC(Thr)->-CC Dominant inclusion body beta-thal trait HbVar.952 ethnic Japanese HbVar.952 phenoCommon beta0 thalassemia HbVar.953 protEffect HBB 124 - 126 (-ACCCCACCA); modified C-terminal sequence: (124)Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-Val-Ala- Gly-Val-Ala-Asn-Ala-Leu-Ala-His-Lys-Tyr- (144)His-COOH HbVar.953 commonName Codons 123/124/125 (-ACCCCACC); Dominant inclusion body beta-thal trait HbVar.953 ethnic Thai HbVar.953 phenoCommon beta0 thalassemia HbVar.954 protEffect HBB 125 (-A); modified C-terminal sequence: (125)Pro-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp- Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr- Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(157)Tyr-COOH HbVar.954 commonName Codon 124 (-A); CCA(Pro)->CC- Dominant, inclusion body beta-thal trait HbVar.954 ethnic Russian HbVar.954 phenoCommon beta0 thalassemia HbVar.955 protEffect HBB 126 (-A); modified C-terminal sequence: (126)Pro-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp- Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser- Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn- Phe-(157)Tyr-COOH HbVar.955 commonName Codon 125 (-A); CCA(Pro)->CC- Dominant inclusion body beta-thal trait HbVar.955 ethnic Japanese HbVar.955 phenoCommon beta0 thalassemia HbVar.956 protEffect Pro- inserted between codons 126(H3) and 127(H4) of HBB HbVar.956 commonName Codons 124-126 (+CCA); Dominant inclusion body beta-thal trait HbVar.956 ethnic Russian HbVar.956 ethnic Armenian HbVar.956 phenoCommon beta0 thalassemia HbVar.957 protEffect HBB 127 (-T); modified C-terminal sequence: (127)Gly-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu- Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile- Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe- (157)Tyr-COOH HbVar.957 commonName Hb Vercelli HbVar.957 alias Codon 126 (-T); GTG(Val)->G-G beta0 HbVar.957 ethnic Italian HbVar.957 phenoCommon beta0 thalassemia HbVar.958 protEffect HBB 127 - 132 (-TGCAGGCTGCCTATCAG); modified C-terminal sequence: (127)Glu-Ser-Gly-Gly-Trp-Cys-(133)Gly-COOH HbVar.958 commonName Codons 126-131 (Val-Gln-Ala-Ala-Thr-Gln) (-17 bp); GTG CAG GCT GCC TAT CAG->G beta0 HbVar.958 ethnic Pakistani HbVar.958 ethnic Pathan HbVar.958 phenoCommon beta0 thalassemia HbVar.959 protEffect HBB 128(H5) Gln>Pro HbVar.959 commonName Codon 127 (A->C); CAG(Gln)->CCG(Pro) Dominant inclusion body beta-thal trait HbVar.959 ethnic English HbVar.959 phenoCommon beta0 thalassemia HbVar.960 protEffect HBB 128(H5) Gln>Arg HbVar.960 commonName Codon 127 (A->G); CAG(Gln)->CGG(Arg) Dominant inclusion body beta-thal trait HbVar.960 ethnic French HbVar.960 phenoCommon beta0 thalassemia HbVar.961 protEffect HBB 128(H5) Gln>Stop HbVar.961 commonName Codon 127 (C->T); CAG(Gln)->TAG(stop codon) beta0 (dominant, inclusion body, beta-thal trait) HbVar.961 ethnic English HbVar.961 phenoCommon beta0 thalassemia HbVar.962 protEffect HBB 128(H5) - 129(H6) Gln-Ala->0 AND inserted Pro HbVar.962 commonName Codons 127/128 (-AGG); CAG GCT(Gln Ala)->C--- CT(Pro) beta0 HbVar.962 ethnic Japanese HbVar.962 phenoCommon beta0 thalassemia HbVar.963 protEffect HBB 128 - 130 (-GCTG); modified C-terminal sequence AND HBB 132 - 136 (-AAAGTGGTGGC); modified C-terminal sequence AND HBB 129(+CCACA); modified C-terminal sequence HbVar.963 commonName Codons 128/129 (-4, -GCTG; +5, +CCACA) Codons 132-135 (-11, -AAAGTGGTGGC) Dominant inclusion body beta-thal trait HbVar.963 ethnic Irish HbVar.963 phenoCommon beta0 thalassemia HbVar.964 protEffect HBB 134 - 138 (-TGGCTGGTGT); modified C-terminal sequence AND HBB 135(+GCAG); modified C-terminal sequence HbVar.964 commonName Codons 134-137 [-(G)TGGCTGGTGT(G) and +(G)GCAG(G)]; Dominant inclusion body beta-thal trait HbVar.964 ethnic Portuguese HbVar.964 phenoCommon beta0 thalassemia HbVar.965 commonName +1480 (C->G); beta+ (silent; only expressed in compound heterozygotes) HbVar.965 alias 3' terminating codon +6 (C->G) beta+ HbVar.965 ethnic Greek HbVar.965 phenoCommon beta+ thalassemia HbVar.966 commonName 3'UTR (-GCATCTGGATTCT) beta (0 or + unclear) HbVar.966 ethnic Turk HbVar.966 phenoCommon beta (0 or + unclear) thalassemia HbVar.968 commonName Poly A (T->C); AATAAA->AACAAA beta+ HbVar.968 ethnic Black HbVar.968 ethnic Turk HbVar.968 phenoCommon beta+ thalassemia HbVar.969 commonName Poly A (A->G); AATAAA->AATGAA beta+ HbVar.969 ethnic Greek HbVar.969 ethnic Macedonian HbVar.969 ethnic Bulgarian HbVar.969 ethnic Albania HbVar.969 phenoCommon beta+ thalassemia HbVar.970 commonName Poly A (A->G); AATAAA->AATAGA beta+ HbVar.970 ethnic Malaysian HbVar.970 ethnic Singapore HbVar.970 phenoCommon beta+ thalassemia HbVar.971 commonName Poly A (A->G); AATAAA->AATAAG beta+ HbVar.971 ethnic United Arab Emirates HbVar.971 ethnic Kurdish Jewish HbVar.971 phenoCommon beta+ thalassemia HbVar.972 commonName Poly A (-AT or -TA); AATAAA->A--AAA beta+ HbVar.972 ethnic French HbVar.972 phenoCommon beta+ thalassemia HbVar.973 commonName Poly A (-AATAA); AATAAA->-----A beta+ HbVar.973 ethnic Arabian HbVar.973 phenoCommon beta+ thalassemia HbVar.974 commonName 25 bp deletion beta0 HbVar.974 ethnic Lebanese HbVar.974 ethnic Kuwaiti HbVar.974 ethnic United Arab Emirates HbVar.974 ethnic Oman HbVar.974 ethnic Iranian HbVar.974 ethnic Pakistani HbVar.974 ethnic Syria HbVar.974 ethnic Bahrein HbVar.974 phenoCommon beta0 thalassemia HbVar.975 commonName 44 bp deletion beta0 HbVar.975 ethnic Greek HbVar.975 ethnic Macedonian HbVar.975 phenoCommon beta0 thalassemia HbVar.976 commonName 105 bp deletion beta0 HbVar.976 ethnic Thai HbVar.976 phenoCommon beta0 thalassemia HbVar.977 commonName 290 bp deletion beta0 HbVar.977 ethnic Lebanese HbVar.977 ethnic Turkish HbVar.977 phenoCommon beta0 thalassemia HbVar.978 commonName 532 bp deletion beta0 HbVar.978 ethnic Black HbVar.978 phenoCommon beta0 thalassemia HbVar.979 commonName 619 bp deletion beta0 HbVar.979 ethnic Oman HbVar.979 ethnic Pakistani HbVar.979 ethnic Maharashtran HbVar.979 ethnic Pathan HbVar.979 ethnic Thai HbVar.979 phenoCommon beta0 thalassemia HbVar.980 commonName 1,393 bp deletion beta0 HbVar.980 ethnic Black HbVar.980 phenoCommon beta0 thalassemia HbVar.981 commonName 1,605 bp deletion the Croatian deletion beta0 HbVar.981 ethnic Croatian HbVar.981 phenoCommon beta0 thalassemia HbVar.987 commonName 12,620 bp deletion; the Dutch deletion beta0 HbVar.987 ethnic Dutch HbVar.987 phenoCommon beta0 thalassemia HbVar.989 commonName ~45 kb deletion; the Filipino deletion beta0 HbVar.989 ethnic Filipino HbVar.989 ethnic Indonesian HbVar.989 ethnic Malay HbVar.989 phenoCommon beta0 thalassemia HbVar.991 commonName -77 (T->C) delta (0 or + unclear) HbVar.991 ethnic Japanese HbVar.991 phenoCommon delta (0 or + unclear) thalassemia HbVar.992 commonName -65 (A->G) delta+ HbVar.992 ethnic Greek HbVar.992 ethnic Cypriot HbVar.992 phenoCommon delta+ thalassemia HbVar.993 commonName -55 (T->C) delta+ HbVar.993 ethnic Greek HbVar.993 ethnic Cypriot HbVar.993 phenoCommon delta+ thalassemia HbVar.994 commonName -36 (C->A); probably delta+ HbVar.994 ethnic Greek HbVar.994 phenoCommon delta+ thalassemia HbVar.995 protEffect HBD 5(A1) Thr>Ile HbVar.995 commonName Codon 4 (ACT->ATT) delta+ HbVar.995 ethnic Greek HbVar.995 ethnic Cypriot HbVar.995 phenoCommon delta+ thalassemia HbVar.996 protEffect HBD 31(B12) Arg>Thr HbVar.996 commonName Codon 30 (AGG->ACG) delta0 HbVar.996 ethnic Italian HbVar.996 phenoCommon delta0 thalassemia HbVar.997 commonName IVS-I-2 (T->C) delta0 HbVar.997 ethnic Italian HbVar.997 phenoCommon delta0 thalassemia HbVar.998 protEffect HBD 38(C3) Trp>Stop HbVar.998 commonName Codon 37 (TGG->TAG) delta0 HbVar.998 ethnic Sardinian HbVar.998 phenoCommon delta0 thalassemia HbVar.999 protEffect HBD 60 (-A); modified C-terminal sequence: (60)Arg-COOH HbVar.999 commonName Codon 59 (-A); AAG(Lys)->-AG delta0 HbVar.999 ethnic Egyptian HbVar.999 phenoCommon delta0 thalassemia HbVar.1000 protEffect HBD 91(+T); modified C-terminal sequence: (91)stop codon HbVar.1000 commonName Codon 91 (+T) delta0 HbVar.1000 ethnic Belgian HbVar.1000 phenoCommon delta0 thalassemia HbVar.1001 commonName IVS-II-897, A->C; AG^CT->CGCT delta0 HbVar.1001 ethnic Greek HbVar.1001 ethnic Cypriot HbVar.1001 phenoCommon delta0 thalassemia HbVar.1002 protEffect HBD 117(G18) Arg>Cys HbVar.1002 commonName Codon 116 (CGC->TGC) delta+ HbVar.1002 ethnic Greek HbVar.1002 ethnic Cypriot HbVar.1002 phenoCommon delta+ thalassemia HbVar.1003 protEffect HBD 142(H19) Leu>Pro HbVar.1003 commonName Codon 141 (CTG->CCG) delta (0 or + unclear) HbVar.1003 ethnic Greek HbVar.1003 ethnic Cypriot HbVar.1003 phenoCommon delta (0 or + unclear) thalassemia HbVar.1004 commonName Poly A +69 (G->A) delta HbVar.1004 ethnic Sardinian HbVar.1004 phenoCommon delta (0 or + unclear) thalassemia HbVar.1005 commonName -7.2 kb; the Corfu deletion delta0 HbVar.1005 ethnic Greek HbVar.1005 ethnic Italian HbVar.1005 phenoCommon delta0 thalassemia HbVar.1006 commonName -202 (C->G) Ggamma; nd-HPFH HbVar.1006 ethnic Black HbVar.1006 phenoCommon HPFH thalassemia HbVar.1007 commonName -202 (C->T) Agamma; nd-HPFH HbVar.1007 ethnic Black HbVar.1007 phenoCommon HPFH thalassemia HbVar.1009 commonName -198 (T->C) Agamma; the British nd-HPFH HbVar.1009 ethnic British HbVar.1009 ethnic Australian HbVar.1009 phenoCommon HPFH thalassemia HbVar.1010 commonName -196 (C->T) Agamma; the Italian nd-HPFH HbVar.1010 ethnic Italian HbVar.1010 phenoCommon HPFH thalassemia HbVar.1011 commonName -195 (C->G) Agamma; the Brazilian nd-HPFH HbVar.1011 ethnic Brazilian HbVar.1011 phenoCommon HPFH thalassemia HbVar.1012 commonName -175 (T->C) Ggamma; nd-HPFH HbVar.1012 ethnic Black HbVar.1012 phenoCommon HPFH thalassemia HbVar.1013 commonName -175 (T->C) Agamma; the Black nd-HPFH HbVar.1013 ethnic Black HbVar.1013 phenoCommon HPFH thalassemia HbVar.1014 commonName -117 (G->A) Agamma; the Greek-Italian nd-HPFH HbVar.1014 ethnic Greek HbVar.1014 ethnic Italian HbVar.1014 phenoCommon HPFH thalassemia HbVar.1015 commonName -117 (G->A) Agamma; the Black-Greek nd-HPFH HbVar.1015 ethnic Black HbVar.1015 phenoCommon HPFH thalassemia HbVar.1016 commonName -114 (C->G) Ggamma; the Australian nd-HPFH HbVar.1016 ethnic Australian HbVar.1016 phenoCommon HPFH thalassemia HbVar.1017 commonName -114 (C->T) Ggamma; the Japanese nd-HPFH HbVar.1017 ethnic Japanese HbVar.1017 phenoCommon HPFH thalassemia HbVar.1018 commonName -114 (C->T) Agamma; the Georgia nd-HPFH HbVar.1018 ethnic Black HbVar.1018 phenoCommon HPFH thalassemia HbVar.1019 commonName -110 (A->C) Ggamma; the Czech nd-HPFH HbVar.1019 ethnic Czechoslovakian HbVar.1019 phenoCommon HPFH thalassemia HbVar.1020 commonName The 13 bp deletion (-CAATAGCCTTGAC at -114 through -102); HPFH HbVar.1020 ethnic Black HbVar.1020 phenoCommon HPFH thalassemia HbVar.1021 commonName HPFH-1; Black HbVar.1021 ethnic Black HbVar.1021 phenoCommon HPFH thalassemia HbVar.1021 phenoCommon mild Erythrocytosis HbVar.1022 commonName HPFH-2; Ghanaian HbVar.1022 ethnic Black HbVar.1022 ethnic Ghanaian HbVar.1022 phenoCommon HPFH thalassemia HbVar.1022 phenoCommon mild Erythrocytosis HbVar.1023 commonName HPFH-3; Indian HbVar.1023 ethnic Indian HbVar.1023 phenoCommon HPFH thalassemia HbVar.1028 commonName Indian GgammaAgamma(deltabeta)0-Thal HbVar.1028 ethnic Indian HbVar.1028 phenoCommon (delta-beta)0 thalassemia HbVar.1029 commonName Japanese (deltabeta)0-Thal HbVar.1029 ethnic Japanese HbVar.1029 phenoCommon (delta-beta)0 thalassemia HbVar.1030 commonName Spanish (deltabeta)0-Thal HbVar.1030 ethnic Spanish HbVar.1030 phenoCommon (delta-beta)0 thalassemia HbVar.1030 phenoCommon chronic Anemia HbVar.1030 phenoCommon hemolytic Anemia HbVar.1030 phenoCommon mild Anemia HbVar.1031 commonName Black (deltabeta)0-Thal HbVar.1031 ethnic Black HbVar.1031 phenoCommon (delta-beta)0 thalassemia HbVar.1035 commonName Sicilian (deltabeta)0-Thal HbVar.1035 ethnic Mediterranean HbVar.1035 ethnic Sicilian HbVar.1035 ethnic Italian HbVar.1035 ethnic Yugoslavian HbVar.1035 ethnic Hungarian HbVar.1035 ethnic Greek HbVar.1035 ethnic Turk HbVar.1035 ethnic Israel HbVar.1035 ethnic Egyptian HbVar.1035 phenoCommon (delta-beta)0 thalassemia HbVar.1039 commonName German Ggamma(Agammadeltabeta)0-Thal HbVar.1039 ethnic German HbVar.1039 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1042 commonName Turkish Ggamma(Agammadeltabeta)0-Thal HbVar.1042 ethnic Turk HbVar.1042 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1042 phenoCommon moderate Anemia HbVar.1043 commonName Malay-2 Ggamma(Agammadeltabeta)0-Thal HbVar.1043 ethnic Malay HbVar.1043 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1043 phenoCommon moderate Anemia HbVar.1043 phenoCommon mild Hypochromia HbVar.1043 phenoCommon few Target cells HbVar.1043 phenoCommon Jaundice HbVar.1045 commonName Black Ggamma(Agammadeltabeta)0-Thal HbVar.1045 ethnic Black HbVar.1045 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1046 commonName Chinese Ggamma(Agammadeltabeta)0-Thal HbVar.1046 ethnic Chinese HbVar.1046 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1048 commonName HPFH-6 HbVar.1048 alias Thai Ggamma(Agammadeltabeta)0-Thal HbVar.1048 ethnic Thai HbVar.1048 phenoCommon HPFH thalassemia HbVar.1052 commonName Anglo-Saxon (epsilon-gamma-delta-beta)0-Thal HbVar.1052 ethnic Anglo-Saxon HbVar.1052 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia HbVar.1055 commonName Irish (epsilon-gamma-delta-beta)0-Thal HbVar.1055 ethnic Irish HbVar.1055 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia HbVar.1056 commonName Dutch (epsilon-gamma-delta-beta)0-Thal HbVar.1056 ethnic Dutch HbVar.1056 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia HbVar.1058 commonName Hispanic (epsilon-gamma-delta-beta)0-Thal HbVar.1058 ethnic Hispanic HbVar.1058 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia HbVar.1059 commonName Initiation codon (A->G); of an alpha2alpha1 hybrid gene -alpha(-3.7 kb) alpha-Thal-1 HbVar.1059 ethnic Black HbVar.1059 phenoCommon alpha-1 thalassemia HbVar.1061 protEffect HBA2 Initiation codon Met>Thr HbVar.1061 commonName Initiation codon (T->C); ATG->ACG of the alpha2 gene alpha-Thal-2 HbVar.1061 ethnic Italian HbVar.1061 phenoCommon alpha-2 thalassemia HbVar.1061 phenoCommon marked Anemia HbVar.1061 phenoCommon marked Microcytosis HbVar.1062 protEffect HBA2 Initiation codon Met->0 HbVar.1062 commonName Initiation codon (-T); ATG->A-G of the alpha2 gene alpha-Thal-2 HbVar.1062 ethnic Vietnamese HbVar.1062 phenoCommon alpha-2 thalassemia HbVar.1063 commonName Initiation codon (A->G); ATG->GTG of the alpha1 gene alpha-Thal-2 HbVar.1063 ethnic Sardinian HbVar.1063 phenoCommon alpha-2 thalassemia HbVar.1065 commonName IVS-I donor site (GAG GTG AGG->GAG G- - - - -); alpha2-globin gene HbVar.1065 alias alpha-thal-2 (-5nt) HbVar.1065 ethnic Mediterranean HbVar.1065 phenoCommon alpha-2 thalassemia HbVar.1066 commonName IVS-I-116 (A->G) alpha2 gene; alpha-Thal-2 HbVar.1066 ethnic Dutch HbVar.1066 phenoCommon alpha-2 thalassemia HbVar.1067 commonName IVS-I-117 (G->A) alpha1 gene; alpha-Thal-2 HbVar.1067 ethnic Indian HbVar.1067 phenoCommon alpha-2 thalassemia HbVar.1068 protEffect HBA1 52 - 56 (-GCTCTGCCCAGGT); modified C-terminal sequence: (52)Val-Arg-Ala-Thr-Ala-Arg-Arg-Trp-Pro-Thr- (62)Arg-COOH HbVar.1068 commonName Deletion of 13 nts from codons 51-55 of the alpha1 gene; alpha-Thal-2 HbVar.1068 ethnic Spanish HbVar.1068 phenoCommon alpha-2 thalassemia HbVar.1069 protEffect HBA2 117(GH4) Glu>Stop HbVar.1069 commonName Codon 116 (G->T) of the alpha2 gene; GAG->TAG alpha-Thal-2 HbVar.1069 ethnic Black HbVar.1069 phenoCommon alpha-2 thalassemia HbVar.1070 commonName Poly A (A->G); AATAAA->AATAAG of the alpha2 gene alpha-Thal-2 HbVar.1070 ethnic Arabian HbVar.1070 phenoCommon alpha-2 thalassemia HbVar.1071 commonName Poly A (A->G); AATAAA->AATGAA of the alpha2 gene alpha-Thal-2 HbVar.1071 ethnic Turk HbVar.1071 ethnic Cypriot HbVar.1071 ethnic Kuwaiti HbVar.1071 phenoCommon alpha-2 thalassemia HbVar.1072 commonName Poly A; AATAAA->AATA- - of the alpha2 gene alpha-thal-2 HbVar.1072 ethnic Indian HbVar.1072 phenoCommon alpha-2 thalassemia HbVar.1073 commonName 3'UTR (-16 bp) alpha2 gene; alpha-Thal-2 HbVar.1073 ethnic Arabian HbVar.1073 phenoCommon alpha-2 thalassemia HbVar.1074 commonName 2.7 kb deletion involving the alpha1 gene alpha-Thal-2 HbVar.1074 ethnic Chinese HbVar.1074 phenoCommon alpha-2 thalassemia HbVar.1075 commonName 3.5 kb deletion involving the alpha1 gene alpha-Thal-2 HbVar.1075 ethnic Indian HbVar.1075 phenoCommon alpha-2 thalassemia HbVar.1076 commonName 3.7 kb (type I) deletion alpha-2 HbVar.1076 ethnic Indian HbVar.1076 ethnic Far East HbVar.1076 ethnic African HbVar.1076 ethnic Mediterranean HbVar.1076 phenoCommon alpha-2 thalassemia HbVar.1080 commonName 5.3 kb deletion; alpha-Thal-2 HbVar.1080 ethnic Italian HbVar.1080 phenoCommon alpha-2 thalassemia HbVar.1083 commonName - -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes alpha-Thal-1 HbVar.1083 ethnic Black HbVar.1083 phenoCommon alpha-1 thalassemia HbVar.1084 commonName - -(SPAN); deletion of 10.5-12.0 kb including both alpha-globin genes alpha-Thal-1 HbVar.1084 ethnic Spanish HbVar.1084 phenoCommon alpha-1 thalassemia HbVar.1085 commonName - -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes alpha-Thal-1 HbVar.1085 ethnic Spanish HbVar.1085 phenoCommon alpha-1 thalassemia HbVar.1086 commonName - -(SEA); deletion of ~20 kb including both alpha-globin genes alpha-Thal-1 HbVar.1086 ethnic East Asian HbVar.1086 phenoCommon alpha-1 thalassemia HbVar.1087 commonName - -(MED-I); deletion of ~17.5 kb including both alpha-globin genes alpha-Thal-1 HbVar.1087 ethnic Mediterranean HbVar.1087 phenoCommon alpha-1 thalassemia HbVar.1088 commonName -(alpha)20.5; this 20.5 kb deletion involves alpha2 and the 5' end of alpha1; alpha-Thal-1 HbVar.1088 ethnic Mediterranean HbVar.1088 ethnic Central Asian HbVar.1088 phenoCommon alpha-1 thalassemia HbVar.1089 commonName - -(MA); deletion of ~22 kb involving both alpha genes alpha-Thal-1 HbVar.1089 ethnic Spanish HbVar.1089 phenoCommon alpha-1 thalassemia HbVar.1090 commonName - -(SA); deletion of 22.8-23.7 kb involving both alpha-globin genes; alpha-Thal-1 HbVar.1090 ethnic South African HbVar.1090 phenoCommon alpha-1 thalassemia HbVar.1091 commonName - -(BRIT); deletion of ~26 kb involving both alpha genes alpha-Thal-1 HbVar.1091 ethnic British HbVar.1091 ethnic Black HbVar.1091 phenoCommon alpha-1 thalassemia HbVar.1093 commonName - -(CL); deletion of at least 40 kb involving the two alpha and zeta genes alpha-Thal-1 HbVar.1093 phenoCommon alpha-1 thalassemia HbVar.1094 commonName - -(FIL); a deletion of 30-34 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1 HbVar.1094 ethnic Filipino HbVar.1094 phenoCommon alpha-1 thalassemia HbVar.1095 commonName - -(THAI); a deletion of 34-38 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1 HbVar.1095 ethnic Thai HbVar.1095 phenoCommon alpha-1 thalassemia HbVar.1096 commonName - -(CAL); deletion of 32 kb involving both the alpha and zeta genes alpha-Thal-1 HbVar.1096 ethnic Italian HbVar.1096 ethnic Spanish HbVar.1096 phenoCommon alpha-1 thalassemia HbVar.1097 commonName - -(MED-II); a deletion of 26.5 kb involving the two alpha and zeta genes alpha-Thal-1 HbVar.1097 ethnic Turk HbVar.1097 ethnic Mediterranean HbVar.1097 phenoCommon alpha-1 thalassemia HbVar.1100 commonName - -(RT); a deletion of 36.5-40 kb removing the entire alpha gene locus alpha-Thal-1 HbVar.1100 ethnic British HbVar.1100 ethnic German HbVar.1100 phenoCommon alpha-1 thalassemia HbVar.1102 commonName - -(MC); a deletion of at least 46 kb involving both alpha genes and zeta gene alpha-Thal-1 HbVar.1102 ethnic British HbVar.1102 phenoCommon alpha-1 thalassemia HbVar.1103 protEffect HBB 4(NA3) Leu>Val HbVar.1103 commonName Hb Kamakura HbVar.1103 ethnic Japanese HbVar.1103 phenoCommon Hemoglobin variant HbVar.1105 protEffect HBA2 140(HC1) Lys>Glu HbVar.1105 commonName Hb Hanamaki-2 HbVar.1105 ethnic Caucasian HbVar.1105 ethnic English HbVar.1105 ethnic French HbVar.1105 ethnic Irish HbVar.1105 ethnic American Indian HbVar.1105 phenoCommon Hemoglobin variant HbVar.1106 protEffect HBA1 123(H5) His>Tyr HbVar.1106 commonName Hb Yanase HbVar.1106 ethnic Japanese HbVar.1106 phenoCommon Hemoglobin variant HbVar.1107 protEffect HBD 9(A5) Lys>Glu HbVar.1107 commonName Hb A2-Toranomon HbVar.1107 ethnic Japanese HbVar.1107 phenoCommon Hemoglobin variant HbVar.1108 protEffect HBB 89(F4) Leu>Val HbVar.1108 commonName Hb Oofuna HbVar.1108 ethnic Japanese HbVar.1108 phenoCommon Hemoglobin variant HbVar.1109 protEffect HBA1 or HBA2 90(FG1) His>Arg HbVar.1109 commonName Hb Tamano HbVar.1109 ethnic Japanese HbVar.1109 phenoCommon Hemoglobin variant HbVar.1110 protEffect HBB 70(E13) Gly->0 AND Gly-Leu-Gly- inserted between 69(E12) and 71(E14) of HBB HbVar.1110 commonName Hb Nishinomiya HbVar.1110 phenoCommon Hemoglobin variant HbVar.1111 protEffect HBA2 2(NA1) Val>Ala HbVar.1111 commonName Hb Lyon-Bron HbVar.1111 ethnic French HbVar.1111 phenoCommon Hemoglobin variant HbVar.1112 protEffect HBA1 4(A1) Ser>Phe HbVar.1112 commonName Hb Douala HbVar.1112 ethnic Cameroonian HbVar.1112 phenoCommon Hemoglobin variant HbVar.1113 protEffect HBB 137(H14) Gly>Arg HbVar.1113 commonName Hb 'tlangeland HbVar.1113 ethnic Chinese HbVar.1113 phenoCommon Hemoglobin variant HbVar.1114 protEffect HBA2 56(E4) Val>Ala HbVar.1114 commonName Hb Gerland HbVar.1114 ethnic French HbVar.1114 phenoCommon Hemoglobin variant HbVar.1115 protEffect HBG2 76(E19) Ile>Val HbVar.1115 commonName Hb F-Coigneres HbVar.1115 phenoCommon Hemoglobin variant HbVar.1116 protEffect HBA2 10(A7) Asn>Ser HbVar.1116 commonName Hb Zurich-Hottingen HbVar.1116 ethnic Spanish HbVar.1116 phenoCommon Hemoglobin variant HbVar.1117 protEffect HBA1 41(C5) Lys>Asn HbVar.1117 commonName Hb Saratoga Springs HbVar.1117 ethnic Swedish HbVar.1117 phenoCommon Hemoglobin variant HbVar.1118 protEffect HBB 117(G18) His>Tyr HbVar.1118 commonName Hb Rhode Island HbVar.1118 alias Hb Southwark HbVar.1118 phenoCommon Hemoglobin variant HbVar.1119 protEffect HBB 42(C7) Phe>Cys HbVar.1119 commonName Hb Ilmenau HbVar.1119 ethnic German HbVar.1119 phenoCommon Hemoglobin variant HbVar.1120 protEffect HBA1 103(G9) Ser>Arg HbVar.1120 commonName Hb Manitoba II HbVar.1120 ethnic English HbVar.1120 ethnic German HbVar.1120 ethnic Irish HbVar.1120 ethnic Italian HbVar.1120 phenoCommon Hemoglobin variant HbVar.1121 protEffect HBA2 103(G9) Ser>Arg HbVar.1121 commonName Hb Manitoba III HbVar.1121 ethnic Taiwanese HbVar.1121 phenoCommon Hemoglobin variant HbVar.1122 protEffect HBA1 10(A7) Asn>Lys HbVar.1122 commonName Hb Delfzicht HbVar.1122 ethnic Dutch HbVar.1122 phenoCommon Hemoglobin variant HbVar.1123 protEffect HBA1 120(H2) Pro>Ser HbVar.1123 commonName Hb Groene Hart HbVar.1123 alias Hb Bernalda HbVar.1123 ethnic Italian HbVar.1123 ethnic Moroccan HbVar.1123 phenoCommon Hemoglobin variant HbVar.1125 protEffect HBB 10(A6) Ser>Tyr AND HBB 122(GH4) Glu>Gln HbVar.1125 commonName Hb D-Agri HbVar.1125 ethnic Indian HbVar.1125 phenoCommon Hemoglobin variant HbVar.1126 protEffect HBD 147(HC3) His>Arg HbVar.1126 commonName Hb A2-Monreale HbVar.1126 ethnic Sicilian HbVar.1126 phenoCommon Hemoglobin variant HbVar.1128 protEffect HBB 12(A8) Val>Ile AND HBB 122(GH4) Glu>Lys HbVar.1128 commonName Hb O-Tibesti HbVar.1128 ethnic Sudanese HbVar.1128 ethnic Chadian HbVar.1128 phenoCommon Hemoglobin variant HbVar.1129 protEffect HBB 9(A5) Lys>Asn HbVar.1129 commonName Hb Limassol HbVar.1129 ethnic Greek Cypriot HbVar.1129 phenoCommon Hemoglobin variant HbVar.1135 commonName Hb Antalya HbVar.1135 ethnic Turkish HbVar.1135 phenoCommon Thalassemia HbVar.1136 protEffect HBB 113(G14) Cys>Phe HbVar.1136 commonName Hb Canterbury HbVar.1136 ethnic New Zealand HbVar.1136 phenoCommon Hemoglobin variant HbVar.1137 protEffect HBB 127(H4) Val>Leu HbVar.1137 commonName Hb Molfetta HbVar.1137 ethnic Italian HbVar.1137 phenoCommon Hemoglobin variant HbVar.1138 commonName Hb Zurich-Altstetten HbVar.1138 ethnic Thai HbVar.1138 phenoCommon Hemoglobin variant HbVar.1139 protEffect HBA1 or HBA2 45(CE2) Pro>Ala HbVar.1139 commonName Hb Milne HbVar.1139 phenoCommon Hemoglobin variant HbVar.1141 protEffect HBB 147(HC3) His>Gln HbVar.1141 commonName Hb Kodaira II HbVar.1141 ethnic Chinese HbVar.1141 ethnic Thai HbVar.1141 phenoCommon Hemoglobin variant HbVar.1142 protEffect HBA1 133(+T); modified C-terminal sequence: (133)Cys-Glu-His-Arg-Ala-Asp-Leu-Gln- Ile-Pro-Leu-Ser-Trp-Ser-Leu-Gly-Gly-His- Ala-Ser-Cys-Pro-Leu-Gly-Leu-Pro-Pro-Ala- Pro-Pro-Pro-Leu-Pro-Ala-Pro-Val-Pro-Pro- Trp-Ser-Leu-Asn-Lys-(176)Val-COOH HbVar.1142 commonName Hb Pak Num Po HbVar.1142 ethnic Thai HbVar.1142 phenoCommon Thalassemia HbVar.1143 protEffect HBB 65(E8) Gly>Ala HbVar.1143 commonName Hb Aubagne HbVar.1143 ethnic French Caucasian HbVar.1143 phenoCommon Hemoglobin variant HbVar.1144 protEffect HBB 114(G15) Val>Leu HbVar.1144 commonName Hb Champagne HbVar.1144 ethnic French HbVar.1144 phenoCommon Hemoglobin variant HbVar.1145 protEffect HBB 62(E5) Lys>Gln HbVar.1145 commonName Hb Pocos de Caldas HbVar.1145 ethnic Brazilian HbVar.1145 phenoCommon Hemoglobin variant HbVar.1146 protEffect HBG1 122(GH4) Glu>Gln HbVar.1146 commonName Hb F-Campinas HbVar.1146 ethnic Brazilian HbVar.1146 phenoCommon Hemoglobin variant HbVar.1147 protEffect HBB 103(G4) Asn>His HbVar.1147 commonName Hb Canebiere HbVar.1147 phenoCommon Hemoglobin variant HbVar.1148 protEffect HBB 117(G18) His>Leu HbVar.1148 commonName Hb Vexin HbVar.1148 ethnic French Caucasian HbVar.1148 phenoCommon Hemoglobin variant HbVar.1149 protEffect HBB 35(B16) Val>Leu HbVar.1149 commonName Hb Nantes HbVar.1149 ethnic French Caucasian HbVar.1149 phenoCommon Hemoglobin variant HbVar.1150 protEffect HBB 77(E20) Ala>Val HbVar.1150 commonName Hb Harlequin HbVar.1150 ethnic English HbVar.1150 phenoCommon Hemoglobin variant HbVar.1151 protEffect HBB 117(G18) His>Pro HbVar.1151 commonName Hb Miami HbVar.1151 ethnic Brazilian HbVar.1151 phenoCommon Hemoglobin variant HbVar.1152 protEffect HBG2 39(C4) Thr>Pro HbVar.1152 commonName Hb F-Bonheiden HbVar.1152 ethnic Caucasian HbVar.1152 phenoCommon Hemoglobin variant HbVar.1153 protEffect HBB 32(B13) Leu>Val HbVar.1153 commonName Hb Badalona HbVar.1153 ethnic Spanish HbVar.1153 phenoCommon Hemoglobin variant HbVar.1154 protEffect HBB 34(B15) Val>Met HbVar.1154 commonName Hb Rio Claro HbVar.1154 ethnic Brazilian HbVar.1154 phenoCommon Hemoglobin variant HbVar.1155 protEffect HBA2 38(C2) Pro>Leu HbVar.1155 commonName Hb Manawatu HbVar.1155 ethnic British HbVar.1155 phenoCommon Hemoglobin variant HbVar.1156 protEffect HBB 50(CD8) Ser>Cys HbVar.1156 commonName Hb Colima HbVar.1156 ethnic Mexican HbVar.1156 phenoCommon Hemoglobin variant HbVar.1157 protEffect HBB 58(E1) Asn>His HbVar.1157 commonName Hb Sidcup HbVar.1157 phenoCommon Hemoglobin variant HbVar.1158 protEffect HBB 44(CD2) Glu>Lys HbVar.1158 commonName Hb Hornchurch HbVar.1158 ethnic Caucasian HbVar.1158 phenoCommon Hemoglobin variant HbVar.1159 protEffect HBA2 34(B14) Phe>Ser HbVar.1159 commonName Hb Chartres HbVar.1159 ethnic French Caucasian HbVar.1159 phenoCommon Hemoglobin variant HbVar.1160 protEffect HBB 35(B16) Val>Asp HbVar.1160 commonName Hb Santander HbVar.1160 ethnic Spanish HbVar.1160 phenoCommon Hemoglobin variant HbVar.1163 commonName -114(C->A)Ggamma; the Algerian nd-HPFH HbVar.1163 ethnic Algerian HbVar.1163 phenoCommon HPFH thalassemia HbVar.1163 hap .----++. HbVar.1164 protEffect HBB 145 (-A); modified C-terminal sequence: (145)Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(157)Tyr-COOH HbVar.1164 commonName Hb Trento HbVar.1164 ethnic Italian HbVar.1164 phenoCommon Hemoglobin variant HbVar.1165 protEffect HBB 94(F9) Cys>Tyr HbVar.1165 commonName Hb Fort Dodge HbVar.1165 ethnic Caucasian HbVar.1165 phenoCommon Hemoglobin variant HbVar.1166 protEffect HBA1 45(CE2) Pro>Ala HbVar.1166 commonName Hb Hagerstown HbVar.1166 alias Hb Milne HbVar.1166 ethnic Italian HbVar.1166 phenoCommon Hemoglobin variant HbVar.1167 protEffect HBD 58(E1) Asn>Lys HbVar.1167 commonName Hb A2-Campania HbVar.1167 ethnic Italian HbVar.1167 phenoCommon Hemoglobin variant HbVar.1168 protEffect HBD 89(F4) Leu>Val HbVar.1168 commonName Hb A2-Lucania HbVar.1168 ethnic Italian HbVar.1168 phenoCommon Hemoglobin variant HbVar.1169 protEffect HBD 105(G6) Arg>Ser HbVar.1169 commonName Hb A2-Capri HbVar.1169 ethnic Italian HbVar.1169 phenoCommon Hemoglobin variant HbVar.1170 protEffect HBB 87(F2) Ala>Pro HbVar.1170 commonName Hb Cardarelli HbVar.1170 ethnic Italian HbVar.1170 phenoCommon Hemoglobin variant HbVar.1171 protEffect HBB 6(A2) Pro>Ala HbVar.1171 commonName Hb Gorwihl HbVar.1171 alias Hb Hinchingbrooke HbVar.1171 ethnic German HbVar.1171 phenoCommon Hemoglobin variant HbVar.1172 protEffect HBA2 125(H7) Ser>Pro HbVar.1172 commonName Hb Policoro HbVar.1172 ethnic Italian HbVar.1172 phenoCommon Hemoglobin variant HbVar.1173 protEffect HBB 7(A3) Glu>Val AND HBB 69(E12) Leu>Phe HbVar.1173 commonName Hb Jamaica Plain HbVar.1173 ethnic Puerto Rican HbVar.1173 phenoCommon Hemoglobin variant HbVar.1174 protEffect HBA2 140(HC1) Lys>Asn HbVar.1174 commonName Hb Fukui HbVar.1174 ethnic Japanese HbVar.1174 phenoCommon Hemoglobin variant HbVar.1175 protEffect HBA2 Initiation codon Met>Val HbVar.1175 commonName alpha2 ATG->GTG HbVar.1175 ethnic Italian HbVar.1175 phenoCommon alpha-2 thalassemia HbVar.1176 protEffect HBA1 24(B4) Glu>Stop HbVar.1176 commonName alpha1 cd23 GAG->TAG HbVar.1176 ethnic Italian HbVar.1176 phenoCommon alpha-1 thalassemia HbVar.1177 commonName alpha2 +832 G->A HbVar.1177 ethnic European HbVar.1177 ethnic Italian HbVar.1177 phenoCommon Thalassemia HbVar.1178 commonName alpha1 +22 T->C HbVar.1178 ethnic Italian HbVar.1178 phenoCommon alpha-1 thalassemia HbVar.1179 commonName -76 (A->T) delta0 HbVar.1179 ethnic Italian HbVar.1179 phenoCommon delta0 thalassemia HbVar.1180 commonName delta IVSII-6 T->A HbVar.1180 ethnic Italian HbVar.1180 phenoCommon delta+ thalassemia HbVar.1181 protEffect HBB 78(EF1) His>Leu HbVar.1181 commonName Hb St. Joseph's HbVar.1181 ethnic Canadian HbVar.1181 phenoCommon Hemoglobin variant HbVar.1182 protEffect HBA1 91(FG2) Lys>Arg HbVar.1182 commonName Hb Clinico Madrid II HbVar.1182 ethnic Spanish HbVar.1182 phenoCommon Hemoglobin variant HbVar.1183 protEffect HBA2 97(G3) Val>Asp HbVar.1183 commonName Hb El Escorial HbVar.1183 ethnic Nigerian HbVar.1183 phenoCommon Hemoglobin variant HbVar.1184 protEffect Ala-Leu-Thr-Asn- inserted between codons 69(E17) and 70(E18) of HBA1 HbVar.1184 commonName Hb Esch HbVar.1184 ethnic Portuguese HbVar.1184 phenoCommon Hemoglobin variant HbVar.1185 protEffect HBB 60(E3) Lys>Asn HbVar.1185 commonName Hb J-Lome HbVar.1185 ethnic African HbVar.1185 ethnic Japanese HbVar.1185 ethnic Vietnamese HbVar.1185 phenoCommon Hemoglobin variant HbVar.1186 commonName -31 (A->G) delta+ HbVar.1186 ethnic Italian HbVar.1186 phenoCommon delta+ thalassemia HbVar.1187 protEffect HBA2 66(E14) Ala>Thr HbVar.1187 commonName Hb Part-Dieu HbVar.1187 ethnic French Caucasian HbVar.1187 phenoCommon Hemoglobin variant HbVar.1188 protEffect HBA2 70(E18) Ala>Thr HbVar.1188 commonName Hb Decines-Charpieu HbVar.1188 ethnic French Caucasian HbVar.1188 phenoCommon Hemoglobin variant HbVar.1189 protEffect HBA1 132(H14) Ser>Phe HbVar.1189 commonName Hb Lusaka HbVar.1189 ethnic Zambian HbVar.1189 phenoCommon Hemoglobin variant HbVar.1190 protEffect HBA2 43(C7) Tyr>His HbVar.1190 commonName Hb Barika HbVar.1190 ethnic Algerian HbVar.1190 phenoCommon Hemoglobin variant HbVar.1191 protEffect HBB 67(E10) Lys>Asn HbVar.1191 commonName Hb Ulm HbVar.1191 ethnic German HbVar.1191 phenoCommon Hemoglobin variant HbVar.1192 commonName Poly A (A->C); AATAAA->AATAAC HbVar.1192 ethnic Surinam HbVar.1192 phenoCommon alpha-2 thalassemia HbVar.1194 commonName -30 (T->C); delta+ HbVar.1194 ethnic Greek HbVar.1194 phenoCommon delta+ thalassemia HbVar.1196 commonName IVS II-894 (C->T); delta+ HbVar.1196 ethnic Greek HbVar.1196 phenoCommon delta+ thalassemia HbVar.1197 commonName IVS-I 3' AG->AC; delta0 HbVar.1197 ethnic Greek HbVar.1197 phenoCommon delta0 thalassemia HbVar.1199 protEffect HBA2 60(E8) Gly>Arg HbVar.1199 commonName Hb Zurich-Albisrieden HbVar.1199 ethnic Swiss HbVar.1199 phenoCommon Hemoglobin variant HbVar.1200 protEffect HBB 117(+TGAT); modified C-terminal sequence: (117)Leu-Ile-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-Thr-
Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-Gly-
Trp-Cys-Gly-(140)COOH HbVar.1200 commonName Codon 116 (+TGAT) HbVar.1200 phenoCommon beta0 thalassemia HbVar.1201 protEffect HBB 104(G5) Phe>Val HbVar.1201 commonName Hb Sparta HbVar.1201 ethnic Caucasian HbVar.1201 phenoCommon Hemoglobin variant HbVar.1202 protEffect HBB 30(B11) Gly>Ser HbVar.1202 commonName Hb Tizi-Ouzou HbVar.1202 ethnic Algerian HbVar.1202 phenoCommon Hemoglobin variant HbVar.1203 protEffect HBB 27(B8) Glu>Ala HbVar.1203 commonName Hb Tripoli HbVar.1203 ethnic Libyan HbVar.1203 phenoCommon Hemoglobin variant HbVar.1204 protEffect HBB 117(G18) His->0 AND Arg-Val-Leu-Ala-His- inserted between 116(G17) and 118(G19) of HBB HbVar.1204 commonName Hb Antibes-Juan-Les-Pins HbVar.1204 ethnic French Caucasian HbVar.1204 phenoCommon Hemoglobin variant HbVar.1205 protEffect HBA1 94(FG5) Val>Ala HbVar.1205 commonName Hb Die HbVar.1205 ethnic French HbVar.1205 phenoCommon Hemoglobin variant HbVar.1207 protEffect HBA1 100(G6) Lys>Asn HbVar.1207 commonName Hb Beziers HbVar.1207 alias Hb Harlow HbVar.1207 ethnic French Caucasian HbVar.1207 phenoCommon Hemoglobin variant HbVar.1208 protEffect HBG1 137(H14) Ala>Gly HbVar.1208 commonName Hb F-Charlotte HbVar.1208 ethnic African-American HbVar.1208 phenoCommon Hemoglobin variant HbVar.1209 protEffect HBB 7(A3) Glu>Val AND HBB 91(F6) Glu>Lys HbVar.1209 commonName Hb S-Cameroon HbVar.1209 ethnic Cameroonian HbVar.1209 phenoCommon Hemoglobin variant HbVar.1210 protEffect HBB 10(A6) Ser>Tyr HbVar.1210 commonName Hb Brem-sur-Mer HbVar.1210 ethnic French Caucasian HbVar.1210 phenoCommon Hemoglobin variant HbVar.1211 protEffect HBA2 82(F2) Ser>Pro HbVar.1211 commonName Hb Passy HbVar.1211 ethnic Turkish HbVar.1211 phenoCommon Hemoglobin variant HbVar.1212 protEffect HBD 134(H11) Val>Ala HbVar.1212 commonName Hb A2-Ninive HbVar.1212 ethnic Iraqi HbVar.1212 phenoCommon Hemoglobin variant HbVar.1213 protEffect HBB 142 (-C); modified C-terminal sequence: (142)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe- Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH HbVar.1213 commonName Hb Florida HbVar.1213 ethnic Argentine HbVar.1213 phenoCommon Thalassemia HbVar.1214 protEffect HBB 7(A3) Glu>Val AND HBB 133(H10) Lys>Asn HbVar.1214 commonName Hb S-South End HbVar.1214 phenoCommon Hemoglobin variant HbVar.1215 protEffect HBA1 31(B11) Glu>Val HbVar.1215 commonName Hb Itapira HbVar.1215 ethnic Brazilian HbVar.1215 phenoCommon Hemoglobin variant HbVar.1216 protEffect HBA1 31(B11) Glu>Ala HbVar.1216 commonName Hb Bom Jesus da Lapa HbVar.1216 ethnic Brazilian HbVar.1216 phenoCommon Hemoglobin variant HbVar.1217 protEffect HBA2 17(A14) Lys>Thr HbVar.1217 commonName Hb Boa Esperanca HbVar.1217 ethnic Brazilian HbVar.1217 phenoCommon Hemoglobin variant HbVar.1218 protEffect HBG1 137(H14) Ala>Ser HbVar.1218 commonName Hb F-Porto Torres HbVar.1218 ethnic Sardinian HbVar.1218 phenoCommon Hemoglobin variant HbVar.1219 protEffect HBB 71(E14) Ala>Gly HbVar.1219 commonName Hb Hershey HbVar.1219 ethnic Sicilian HbVar.1219 phenoCommon Hemoglobin variant HbVar.1220 protEffect HBB 71(E14) Ala>Pro HbVar.1220 commonName Hb Abington HbVar.1220 phenoCommon Hemoglobin variant HbVar.1221 protEffect HBB 119 (-T); modified C-terminal sequence: (119)Leu-Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg- Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp- Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys- Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH HbVar.1221 commonName Hb Sainte Seve HbVar.1221 ethnic French Caucasian HbVar.1221 phenoCommon Thalassemia HbVar.1222 protEffect HBB 58(E1) Asn>Thr HbVar.1222 commonName Hb Viseu HbVar.1222 ethnic Portuguese HbVar.1222 phenoCommon Hemoglobin variant HbVar.1223 protEffect HBA2 77(EF5) Met>Ile HbVar.1223 commonName Hb Hellux HbVar.1223 ethnic Greek HbVar.1223 phenoCommon Hemoglobin variant HbVar.1224 protEffect HBA1 105(G11) Cys>Ser HbVar.1224 commonName Hb Oegstgeest HbVar.1224 ethnic Surinam HbVar.1224 phenoCommon Hemoglobin variant HbVar.1225 protEffect HBB 95(FG1) Asp>Tyr HbVar.1225 commonName Hb Geldrop St Anna HbVar.1225 ethnic Dutch HbVar.1225 phenoCommon Hemoglobin variant HbVar.1226 protEffect HBA2 126(H8) Leu>Arg HbVar.1226 commonName Hb Plasencia HbVar.1226 ethnic Spanish HbVar.1226 phenoCommon Hemoglobin variant HbVar.1227 protEffect HBB 48(CD6) Asp>His HbVar.1227 commonName Hb Maryland HbVar.1227 phenoCommon Hemoglobin variant HbVar.1228 protEffect HBB 38(C3) Trp>Cys HbVar.1228 commonName Hb Kent HbVar.1228 phenoCommon Hemoglobin variant HbVar.1229 protEffect HBB 137(H14) Gly>Cys HbVar.1229 commonName Hb Visayan HbVar.1229 ethnic Filipino HbVar.1229 phenoCommon Hemoglobin variant HbVar.1230 protEffect HBB 139(H16) Ala>Val HbVar.1230 commonName Hb Cutlerville HbVar.1230 ethnic Caucasian HbVar.1230 phenoCommon Hemoglobin variant HbVar.1231 protEffect HBB 142(H19) Leu>Val AND HBB 145(HC1) Lys-Tyr-His->0 HbVar.1231 commonName Hb Kochi HbVar.1231 ethnic Japanese HbVar.1231 phenoCommon Hemoglobin variant HbVar.1232 protEffect HBB 24(B5) Val>Ala HbVar.1232 commonName Hb Zoeterwoude HbVar.1232 ethnic Dutch HbVar.1232 phenoCommon Hemoglobin variant HbVar.1233 protEffect HBA1 52(CE9) Gly>Ser HbVar.1233 commonName Hb Riccarton HbVar.1233 ethnic Caucasian HbVar.1233 phenoCommon Hemoglobin variant HbVar.1234 protEffect HBB 144(H21) His>Leu HbVar.1234 commonName Hb Vancleave HbVar.1234 phenoCommon Hemoglobin variant HbVar.1235 protEffect HBA2 33(B13) Met>Ile HbVar.1235 commonName Hb Amsterdam HbVar.1235 ethnic Surinam HbVar.1235 phenoCommon Thalassemia HbVar.1236 protEffect HBB 83(EF6) Lys>Arg HbVar.1236 commonName Hb Taradale HbVar.1236 alias Hb Middlesbrough HbVar.1236 alias Hb Keystone HbVar.1236 phenoCommon Hemoglobin variant HbVar.1237 protEffect HBB 138(H15) - 140(H17) Val-Ala-Asn->0 AND inserted Asp HbVar.1237 commonName Hb Stara Zagora HbVar.1237 ethnic Bulgarian HbVar.1237 phenoCommon Thalassemia HbVar.1238 protEffect HBD 60(E3) Lys>Asn HbVar.1238 commonName Hb A2-Pasteur-Tunis HbVar.1238 ethnic Tunisian HbVar.1238 phenoCommon Hemoglobin variant HbVar.1239 protEffect HBA1 or HBA2 10(A7) Asn>Thr HbVar.1239 commonName Hb Broomfield HbVar.1239 phenoCommon Hemoglobin variant HbVar.1240 protEffect HBA1 or HBA2 14(A11) Ala>Pro HbVar.1240 commonName Hb Ravenscourt Park HbVar.1240 ethnic Jamaican HbVar.1240 ethnic Cuban HbVar.1240 phenoCommon Hemoglobin variant HbVar.1241 protEffect HBA1 or HBA2 28(B8) Glu>Ala HbVar.1241 commonName Hb Hackney HbVar.1241 alias Hb Xu Chang HbVar.1241 phenoCommon Hemoglobin variant HbVar.1242 protEffect HBA1 or HBA2 39(C3) Thr>Ile HbVar.1242 commonName Hb Chelsea HbVar.1242 phenoCommon Hemoglobin variant HbVar.1243 protEffect HBA1 or HBA2 51(CE8) His>Leu HbVar.1243 commonName Hb Dublin HbVar.1243 ethnic Dominican HbVar.1243 ethnic European HbVar.1243 phenoCommon Hemoglobin variant HbVar.1244 protEffect HBA1 or HBA2 77(EF5) Met>Arg HbVar.1244 commonName Hb Walpole HbVar.1244 phenoCommon Hemoglobin variant HbVar.1246 protEffect HBB 7(A3) Glu>Lys AND HBB 84(EF7) Gly>Asp HbVar.1246 commonName Hb C-New Cross HbVar.1246 ethnic Nigerian HbVar.1246 phenoCommon Hemoglobin variant HbVar.1247 protEffect HBB 102(G3) Glu>Ala HbVar.1247 commonName Hb Youngstown HbVar.1247 alias Hb St Mary's HbVar.1247 phenoCommon Hemoglobin variant HbVar.1248 protEffect HBD 14(A10) Ala>Asp HbVar.1248 commonName Hb A2-MUMC HbVar.1248 alias Hb A2-Corleone HbVar.1248 ethnic Sicilian HbVar.1248 phenoCommon Hemoglobin variant HbVar.1249 protEffect HBB 75(E18) Gly>Ser HbVar.1249 commonName Hb Kokomo HbVar.1249 phenoCommon Hemoglobin variant HbVar.1250 protEffect HBA2 76(EF4) Asp>Val HbVar.1250 commonName Hb Al-Hammadi Riyadh HbVar.1250 ethnic Saudi Arabian HbVar.1250 phenoCommon Hemoglobin variant HbVar.1251 protEffect HBB 139(H16) Ala>Thr HbVar.1251 commonName Hb Buzen HbVar.1251 ethnic Japanese HbVar.1251 phenoCommon Hemoglobin variant HbVar.1254 commonName Ti~ HbVar.1254 phenoCommon Thalassemia HbVar.1255 protEffect HBA2 41(C5) Lys>Gln HbVar.1255 commonName Hb Linwood HbVar.1255 phenoCommon Hemoglobin variant HbVar.1256 protEffect HBB 71(E14) Ala>Val HbVar.1256 commonName Hb Marineo HbVar.1256 ethnic Sicilian HbVar.1256 phenoCommon Hemoglobin variant HbVar.1257 protEffect HBB 9(A5) Lys>Arg HbVar.1257 commonName Hb Lucknow HbVar.1257 ethnic Indian HbVar.1257 phenoCommon Hemoglobin variant HbVar.2501 protEffect HBA2 25(B5) Tyr>Asp HbVar.2501 commonName Hb Creve Coeur HbVar.2501 ethnic North European HbVar.2501 phenoCommon Hemoglobin variant HbVar.2502 protEffect HBA1 69(E17) Asn>His HbVar.2502 commonName Hb Jeddah HbVar.2502 ethnic Saudi Arabian HbVar.2502 ethnic Yemenite HbVar.2502 phenoCommon Hemoglobin variant HbVar.2503 protEffect HBA1 131(H13) Ala>Val HbVar.2503 commonName Hb Westborough HbVar.2503 ethnic Indian HbVar.2503 phenoCommon Hemoglobin variant HbVar.2504 protEffect HBA1 83(F3) - 85(F5) Ala-Leu-Ser->0 HbVar.2504 commonName Codons 82/83/84 del 5bp insertion HbVar.2504 ethnic Portuguese HbVar.2504 phenoCommon alpha-1 thalassemia HbVar.2508 commonName IVS II-761 A>G HbVar.2508 phenoCommon beta (0 or + unclear) thalassemia HbVar.2509 commonName 5'UTR; +20 (C>T) HbVar.2509 phenoCommon Thalassemia HbVar.2510 protEffect HBB 132 - 133 (-GA); modified C-terminal sequence: (132)Gln-Ser-Gly-Gly-Trp-Cys-(138)Gly-COOH HbVar.2510 commonName Codons 131/132 (-GA) HbVar.2510 phenoCommon beta0 thalassemia HbVar.2511 protEffect HBB 92 (-T); modified C-terminal sequence HbVar.2511 commonName Hb MorganTown HbVar.2511 alias beta91 CTG>CG HbVar.2511 ethnic Irish HbVar.2511 phenoCommon beta (0 or + unclear) thalassemia HbVar.2512 commonName Cretan HPFH HbVar.2512 alias Agamma -158 C>T HbVar.2512 ethnic Greek HbVar.2512 phenoCommon HPFH thalassemia HbVar.2513 commonName Venezuelan nd-HPFH HbVar.2513 alias Agamma -211 C>T HbVar.2513 ethnic Black HbVar.2513 phenoCommon HPFH thalassemia HbVar.2514 protEffect HBA2 23(B3) Gly>Gly HbVar.2514 commonName Codon 22 C>T HbVar.2514 ethnic Surinam HbVar.2514 phenoCommon alpha-2 thalassemia HbVar.2515 protEffect HBA1 15(A12) Trp>Stop HbVar.2515 commonName Codon 14 G>A HbVar.2515 ethnic Iranian HbVar.2515 phenoCommon alpha-1 thalassemia HbVar.2516 protEffect HBA2 19 (-G); modified C-terminal sequence: (19)Ala-Arg-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg-
Pro-Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro-
Pro-Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(48)COOH HbVar.2516 commonName Codon 19 (-G) HbVar.2516 ethnic Iranian HbVar.2516 phenoCommon alpha-2 thalassemia HbVar.2517 commonName -93 C>G HbVar.2517 ethnic Surinam HbVar.2517 phenoCommon beta+ thalassemia HbVar.2518 protEffect HBB 5(A1) Thr>Asn HbVar.2518 commonName Hb Wurzburg HbVar.2518 ethnic German HbVar.2518 phenoCommon Hemoglobin variant HbVar.2519 protEffect HBA2 104(G10) His>Leu HbVar.2519 commonName Hb Bronovo HbVar.2519 ethnic Turkish HbVar.2519 phenoCommon Hemoglobin variant HbVar.2520 protEffect HBB 7(A3) Glu>Val AND HBB 38(C3) Trp>Gly HbVar.2520 commonName Hb C-Ndjamena HbVar.2520 ethnic Chadian HbVar.2520 phenoCommon Hemoglobin variant HbVar.2522 commonName IVS II-2 (T>A) HbVar.2522 phenoCommon alpha-2 thalassemia HbVar.2526 protEffect HBG2 21(B2) Val>Ala HbVar.2526 commonName Hb F-Bron HbVar.2526 phenoCommon Hemoglobin variant HbVar.2527 commonName IVS-I-129 (A>G) HbVar.2527 ethnic German HbVar.2527 phenoCommon beta0 thalassemia HbVar.2528 protEffect HBB 60(E3) Lys>Stop HbVar.2528 commonName Cd59 (AAG>TAG) HbVar.2528 phenoCommon beta0 thalassemia HbVar.2529 protEffect HBB 38(C3) Trp>Stop HbVar.2529 commonName Cd37 (TGG>TAG) HbVar.2529 ethnic Afghan HbVar.2529 phenoCommon beta0 thalassemia HbVar.2529 phenoCommon moderate Splenomegaly HbVar.2530 protEffect HBB Initiation codon Met>Lys HbVar.2530 commonName Initiation codon T>A HbVar.2530 ethnic French Caucasian HbVar.2530 phenoCommon beta (0 or + unclear) thalassemia HbVar.2531 protEffect HBA2 24(B4) Glu>Stop HbVar.2531 commonName Cd23 (GAG>TAG) HbVar.2531 ethnic Tunisian HbVar.2531 phenoCommon alpha-2 thalassemia HbVar.2532 protEffect HBA2 91(FG2) Lys>Stop HbVar.2532 commonName Cd90 (AAG>TAG) HbVar.2532 ethnic Macedonian HbVar.2532 phenoCommon alpha (1 or 2 unclear) thalassemia HbVar.2533 protEffect HBB 78 (-C); modified C-terminal sequence HbVar.2533 commonName Cd77/78 (-C) HbVar.2533 ethnic Mexican HbVar.2533 phenoCommon beta (0 or + unclear) thalassemia HbVar.2534 commonName IVS-II-2 (T>A) HbVar.2534 ethnic Turkish HbVar.2534 phenoCommon beta (0 or + unclear) thalassemia HbVar.2535 commonName -25 (G>C) HbVar.2535 ethnic African-American HbVar.2535 phenoCommon beta (0 or + unclear) thalassemia HbVar.2536 commonName -32 (C>T) HbVar.2536 ethnic Hispanic HbVar.2536 phenoCommon beta (0 or + unclear) thalassemia HbVar.2537 commonName -27 (-AA) HbVar.2537 phenoCommon beta (0 or + unclear) thalassemia HbVar.2538 protEffect HBB 77 (-GC); modified C-terminal sequence HbVar.2538 commonName Cd76 (-GC) HbVar.2538 ethnic North African HbVar.2538 phenoCommon beta0 thalassemia HbVar.2539 protEffect HBA2 109(G15) Thr>Asn HbVar.2539 commonName Hb Bleuland HbVar.2539 ethnic Surinam HbVar.2539 phenoCommon Hemoglobin variant HbVar.2540 protEffect HBB 39(C4) Thr>Ile HbVar.2540 commonName Hb La Coruna HbVar.2540 ethnic Spanish HbVar.2540 phenoCommon Hemoglobin variant HbVar.2541 protEffect HBA2 5(A2) Pro>His HbVar.2541 commonName Hb Bellevue HbVar.2541 phenoCommon Hemoglobin variant HbVar.2542 protEffect HBB 33(B14) Leu>Gln HbVar.2542 commonName Hb Clermont Ferrand HbVar.2542 ethnic Vietnamese HbVar.2542 phenoCommon Hemoglobin variant HbVar.2543 protEffect HBB 51(D1) Thr>Ser HbVar.2543 commonName Hb Zurich-Langstrasse HbVar.2543 ethnic Sicilian HbVar.2543 phenoCommon Hemoglobin variant HbVar.2545 commonName Hb Jambol HbVar.2545 ethnic Bulgarian HbVar.2545 phenoCommon Thalassemia HbVar.2546 protEffect HBB 119(GH1) Phe>Val HbVar.2546 commonName Hb Sodertalje HbVar.2546 ethnic Swedish HbVar.2546 phenoCommon Hemoglobin variant HbVar.2548 protEffect HBB 133(H10) Lys>Stop HbVar.2548 commonName Cd132A>T HbVar.2548 ethnic Ghanaian HbVar.2548 phenoCommon beta0 thalassemia HbVar.2550 protEffect HBD 3(NA2) His>Leu HbVar.2550 commonName Hb A2-Catania HbVar.2550 ethnic Sicilian HbVar.2550 phenoCommon Hemoglobin variant HbVar.2554 protEffect HBD 71(E14) Ala>Gly HbVar.2554 commonName Hb A2-Ventimiglia HbVar.2554 ethnic Sicilian HbVar.2554 phenoCommon Hemoglobin variant HbVar.2555 protEffect HBD 88(F3) Gln>Lys HbVar.2555 commonName Hb A2-Montechiaro HbVar.2555 ethnic Sicilian HbVar.2555 phenoCommon Hemoglobin variant HbVar.2556 protEffect HBD 141(H18) Ala>Val HbVar.2556 commonName Hb A2-Bagheria HbVar.2556 ethnic Sicilian HbVar.2556 phenoCommon Hemoglobin variant HbVar.2557 protEffect HBB 81(EF4) Asn>Tyr HbVar.2557 commonName Hb Hounslow HbVar.2557 ethnic Afghan HbVar.2557 phenoCommon Hemoglobin variant HbVar.2558 protEffect HBB 85(+GCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGG); modified C-terminal sequence: (85)Ala-His-Gly-Lys-Lys-Val-Leu-Gly-Ala-Phe-Ser-Asp-Gly-Leu-Ala-His-Leu-Asp-Asn-Leu-Lys-Gly-Pro-Leu-Pro-His-(110)COOH HbVar.2558 commonName Codon 84 (65bp duplication) HbVar.2558 ethnic African HbVar.2558 phenoCommon beta0 thalassemia HbVar.2563 protEffect HBA2 95(G1) Asp>Val HbVar.2563 commonName Hb Kirksey HbVar.2563 ethnic Caucasian HbVar.2563 phenoCommon Hemoglobin variant HbVar.2565 protEffect HBA2 135(H17) Thr>Ala HbVar.2565 commonName Hb Brunswick HbVar.2565 ethnic Caucasian HbVar.2565 phenoCommon Hemoglobin variant HbVar.2566 protEffect HBA1 136(H18) Val>Met HbVar.2566 commonName Hb Trenton HbVar.2566 phenoCommon Hemoglobin variant HbVar.2567 protEffect HBA2 139(H21) Ser>Phe HbVar.2567 commonName Hb Frauenfeld HbVar.2567 ethnic Caucasian HbVar.2567 phenoCommon Hemoglobin variant HbVar.2569 protEffect HBA2 136(H18) Val>Leu HbVar.2569 commonName Hb Tottenham HbVar.2569 ethnic British HbVar.2569 phenoCommon Hemoglobin variant HbVar.2570 protEffect HBA2 36(B16) Ser>Pro HbVar.2570 commonName Hb Evora HbVar.2570 ethnic Portuguese HbVar.2570 phenoCommon Hemoglobin variant HbVar.2571 commonName IVS II-726 (A>G) HbVar.2571 ethnic Moroccan HbVar.2571 phenoCommon beta (0 or + unclear) thalassemia HbVar.2571 phenoCommon moderate Splenomegaly HbVar.2572 commonName IVS I-7 (A>T) HbVar.2572 ethnic Italian HbVar.2572 phenoCommon beta+ thalassemia HbVar.2573 commonName IVS II-2 (T>C) HbVar.2573 ethnic Indian HbVar.2573 phenoCommon beta+ thalassemia HbVar.2574 protEffect HBB 105 (-G); modified C-terminal sequence: (105)Arg-Leu-Leu-Gly-Asn-Val-Leu-Val-Cys-Val-
Leu-Ala-His-His-Phe-Gly-Lys-Glu-Phe-Thr-
Pro-Pro-Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-
Val-Ala-Gly-Val-Ala-Asn-Ala-Leu-Ala-His-
Lys-Tyr-His-(147)COOH HbVar.2574 commonName Codon 104 (-G) HbVar.2574 ethnic German HbVar.2574 phenoCommon beta0 thalassemia HbVar.2575 protEffect HBA2 50 (-GC); modified C-terminal sequence: (50)Thr-Arg-Leu-Cys-Pro-Gly-(55)COOH HbVar.2575 commonName Codon 49 (-GC) HbVar.2575 phenoCommon alpha-2 thalassemia HbVar.2576 protEffect HBD 8(A4) Glu>Ala HbVar.2576 commonName Hb A2-Udine HbVar.2576 ethnic Italian HbVar.2576 phenoCommon Hemoglobin variant HbVar.2577 protEffect HBA2 2(NA1) Val>Met HbVar.2577 commonName Hb A2-Fontanabuona HbVar.2577 ethnic Italian HbVar.2577 phenoCommon Hemoglobin variant HbVar.2578 protEffect HBA1 7(A4) Asp>His HbVar.2578 commonName Hb Galliera I HbVar.2578 ethnic Italian HbVar.2578 phenoCommon Hemoglobin variant HbVar.2579 protEffect HBA2 7(A4) Asp>His HbVar.2579 commonName Hb Galliera II HbVar.2579 ethnic Italian HbVar.2579 phenoCommon Hemoglobin variant HbVar.2580 protEffect HBB 7(A3) Glu>Gly HbVar.2580 commonName Hb Lavagna HbVar.2580 ethnic Italian HbVar.2580 phenoCommon Hemoglobin variant HbVar.2581 protEffect HBA1 60(E8) Gly>Ser HbVar.2581 commonName Hb Parma HbVar.2581 ethnic Italian HbVar.2581 phenoCommon Hemoglobin variant HbVar.2582 protEffect HBA1 41(C5) Lys>Thr HbVar.2582 commonName Hb Pisa HbVar.2582 ethnic Italian HbVar.2582 phenoCommon Hemoglobin variant HbVar.2583 protEffect HBB 117(G18) His>Arg HbVar.2583 commonName Hb Sfax HbVar.2583 ethnic Tunisian HbVar.2583 phenoCommon Hemoglobin variant HbVar.2584 protEffect HBB 87(F2) Ala>Ile HbVar.2584 commonName Hb Nebraska HbVar.2584 ethnic Caucasian HbVar.2584 phenoCommon Hemoglobin variant HbVar.2585 protEffect HBA1 92(FG3) Leu>Phe HbVar.2585 commonName Hb Vientiane HbVar.2585 ethnic Laotian HbVar.2585 phenoCommon Hemoglobin variant HbVar.2586 protEffect HBA1 139(H21) Ser>Cys HbVar.2586 commonName Hb Ecuador HbVar.2586 phenoCommon Hemoglobin variant HbVar.2587 protEffect HBA2 15(A12) Trp>Cys HbVar.2587 commonName Hb Bladensburg HbVar.2587 ethnic Nigerian HbVar.2587 phenoCommon Hemoglobin variant HbVar.2588 protEffect HBB 4(NA3) Leu>Gln HbVar.2588 commonName Hb Santo Domingo HbVar.2588 ethnic Dominican HbVar.2588 phenoCommon Hemoglobin variant HbVar.2589 protEffect HBB 11(A7) Ala>Thr HbVar.2589 commonName Hb Belleville HbVar.2589 phenoCommon Hemoglobin variant HbVar.2590 protEffect HBB 46(CD4) Phe>Tyr HbVar.2590 commonName Hb Den Haag HbVar.2590 ethnic Scandinavian HbVar.2590 phenoCommon Hemoglobin variant HbVar.2591 protEffect HBA2 69(E17) Asn>His HbVar.2591 commonName Hb St. Truiden HbVar.2591 ethnic Belgian HbVar.2591 phenoCommon Hemoglobin variant HbVar.2592 protEffect HBA2 126(H8) Leu>Gln HbVar.2592 commonName Hb West-Einde HbVar.2592 ethnic Turkish HbVar.2592 phenoCommon Hemoglobin variant HbVar.2594 protEffect HBA1 10(A7) Asn>Ser HbVar.2594 commonName Hb Anadour HbVar.2594 ethnic Moroccan HbVar.2594 phenoCommon Hemoglobin variant HbVar.2595 protEffect HBA2 37(C1) Phe>Leu HbVar.2595 commonName Hb Geisinger HbVar.2595 ethnic African-American HbVar.2595 phenoCommon Hemoglobin variant HbVar.2596 protEffect HBA1 71(E19) Val>Met HbVar.2596 commonName Hb Haaksbergen HbVar.2596 ethnic Dutch HbVar.2596 phenoCommon Hemoglobin variant HbVar.2597 commonName IVS I-1 (G>T) HbVar.2597 ethnic Italian HbVar.2597 phenoCommon alpha-2 thalassemia HbVar.2598 commonName IVS I-5 (G>A) HbVar.2598 ethnic Ashkenazi Jews HbVar.2598 phenoCommon alpha-2 thalassemia HbVar.2600 commonName IVS I-55 G>A HbVar.2600 ethnic Hindu HbVar.2600 phenoCommon alpha-2 thalassemia HbVar.2601 commonName -56 (G>C) HbVar.2601 ethnic Moroccan HbVar.2601 phenoCommon Thalassemia HbVar.2602 commonName IVS II-1 (G>T) HbVar.2602 ethnic Surinam HbVar.2602 phenoCommon beta0 thalassemia HbVar.2603 protEffect HBB 107(G8) Leu>Val HbVar.2603 commonName Hb L'Aquila HbVar.2603 ethnic Italian HbVar.2603 phenoCommon Hemoglobin variant HbVar.2604 protEffect HBB 57(D7) Gly>Cys HbVar.2604 commonName Hb Leeds HbVar.2604 ethnic Pakistani HbVar.2604 phenoCommon Hemoglobin variant HbVar.2605 protEffect HBA2 2(NA1) Val>Leu HbVar.2605 commonName Hb St.Jozef HbVar.2605 ethnic Moroccan HbVar.2605 phenoCommon Hemoglobin variant HbVar.2606 protEffect HBA2 22(B2) Ala>Ser HbVar.2606 commonName Hb Zoetermeer HbVar.2606 ethnic Dutch HbVar.2606 phenoCommon Hemoglobin variant HbVar.2607 protEffect HBA1 56(E4) Val>Ala HbVar.2607 commonName Hb Gerland 1 HbVar.2607 ethnic Southeast Asian HbVar.2607 phenoCommon Hemoglobin variant HbVar.2608 protEffect HBA1 83(F3) Ala>Thr HbVar.2608 commonName Hb Hagley Park HbVar.2608 ethnic New Zealand HbVar.2608 phenoCommon Hemoglobin variant HbVar.2609 protEffect HBA1 124(H6) Ala>Pro HbVar.2609 commonName Hb Voreppe HbVar.2609 ethnic French Caucasian HbVar.2609 phenoCommon Thalassemia HbVar.2610 protEffect HBA2 8(A5) Lys>Arg HbVar.2610 commonName Hb Guanajuato HbVar.2610 ethnic Mexican HbVar.2610 phenoCommon Hemoglobin variant HbVar.2611 protEffect HBA1 30(B10) Leu>Val HbVar.2611 commonName Hb Kosovo HbVar.2611 ethnic Yugoslavian HbVar.2611 phenoCommon Hemoglobin variant HbVar.2612 protEffect HBA2 118(GH5) Phe>Ile HbVar.2612 commonName Hb Ambroise Pare HbVar.2612 ethnic French Caucasian HbVar.2612 phenoCommon Hemoglobin variant HbVar.2613 protEffect HBA1 88(F8) His>Asp HbVar.2613 commonName Hb Bonn HbVar.2613 phenoCommon Hemoglobin variant HbVar.2614 commonName IVS I-5 G>A HbVar.2614 ethnic African HbVar.2614 phenoCommon alpha-1 thalassemia HbVar.2615 protEffect HBD 5(A1) Thr>Ser HbVar.2615 commonName Hb A2-Acacias HbVar.2615 ethnic Mediterranean HbVar.2615 phenoCommon Hemoglobin variant HbVar.2616 protEffect HBB 85(EF8) Thr>Asn HbVar.2616 commonName Hb Beaujolais HbVar.2616 ethnic French Caucasian HbVar.2616 phenoCommon Hemoglobin variant HbVar.2617 protEffect HBG2 98(FG4) His>Arg HbVar.2617 commonName Hb F-Lyon HbVar.2617 ethnic French Caucasian HbVar.2617 phenoCommon Hemoglobin variant HbVar.2618 protEffect HBG2 80(EF3) Asp>His HbVar.2618 commonName Hb F-Saint-Etienne HbVar.2618 phenoCommon Hemoglobin variant HbVar.2619 protEffect HBB 118(G19) His>Asp HbVar.2619 commonName Hb North York HbVar.2619 ethnic Iranian HbVar.2619 phenoCommon Hemoglobin variant HbVar.2620 protEffect HBA2 44(CE1) Phe>Ile HbVar.2620 commonName Hb Sens HbVar.2620 ethnic French Caucasian HbVar.2620 phenoCommon Hemoglobin variant HbVar.2621 protEffect HBA2 41(C5) Lys>Asn HbVar.2621 commonName Hb Villiers le Bel HbVar.2621 ethnic French Caucasian HbVar.2621 phenoCommon Hemoglobin variant HbVar.2622 protEffect HBA1 132 (-T); modified C-terminal sequence: (132)Ser-(132)COOH HbVar.2622 commonName Hb Fez HbVar.2622 ethnic Moroccan HbVar.2622 phenoCommon Hemoglobin variant HbVar.2623 protEffect HBA1 135 (-C); modified C-terminal sequence: (135)Thr-Cys-(136)COOH HbVar.2623 commonName Hb Senlis HbVar.2623 ethnic French Caucasian HbVar.2623 phenoCommon Hemoglobin variant HbVar.2624 protEffect HBA2 78(EF6) Pro>Leu HbVar.2624 commonName Hb Asklipios HbVar.2624 ethnic Greek HbVar.2624 phenoCommon Hemoglobin variant HbVar.2625 protEffect HBD 60(E3) Lys>Met HbVar.2625 commonName Hb A2-North Africa HbVar.2625 ethnic Moroccan HbVar.2625 phenoCommon Hemoglobin variant HbVar.2626 protEffect HBA1 86(F6) Asp>His HbVar.2626 commonName Hb Canuts HbVar.2626 ethnic French Caucasian HbVar.2626 phenoCommon Hemoglobin variant HbVar.2627 protEffect HBA2 53(E1) Ser>Phe HbVar.2627 commonName Hb Essex HbVar.2627 ethnic British HbVar.2627 phenoCommon Hemoglobin variant HbVar.2628 protEffect HBB 53(D3) Asp>Tyr HbVar.2628 commonName Hb Languidic HbVar.2628 ethnic French Caucasian HbVar.2628 phenoCommon Hemoglobin variant HbVar.2629 protEffect HBG2 103(G4) Asn>Thr HbVar.2629 commonName Hb F-Sarajevo HbVar.2629 ethnic Bosnian HbVar.2629 phenoCommon Hemoglobin variant HbVar.2631 protEffect HBB 24(B5) Val>Ile HbVar.2631 commonName Hb Saveh HbVar.2631 ethnic Iranian HbVar.2631 phenoCommon Hemoglobin variant HbVar.2632 protEffect HBA1 138(H20) Thr>Pro HbVar.2632 commonName Hb Verona HbVar.2632 ethnic Italian HbVar.2632 phenoCommon Hemoglobin variant HbVar.2633 protEffect HBB 148(+TA); modified C-terminal sequence: (148)Tyr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-
Tyr-(158)COOH HbVar.2633 commonName Hb Monplaisir HbVar.2633 ethnic Spanish HbVar.2633 phenoCommon Hemoglobin variant HbVar.2634 protEffect HBA1 or HBA2 47(CE4) Phe>Val HbVar.2634 commonName Hb Hillingdon HbVar.2634 phenoCommon Hemoglobin variant HbVar.2635 protEffect HBA1 or HBA2 4(A1) Ser>Pro HbVar.2635 commonName Hb Central Middlesex HbVar.2635 ethnic British HbVar.2635 phenoCommon Hemoglobin variant HbVar.2636 protEffect HBA1 or HBA2 49(CE6) Leu>Pro HbVar.2636 commonName Hb Reading HbVar.2636 ethnic British HbVar.2636 phenoCommon Hemoglobin variant HbVar.2637 protEffect HBA1 or HBA2 91(FG2) Lys>Glu HbVar.2637 commonName Hb Sudbury HbVar.2637 ethnic Asian HbVar.2637 phenoCommon Hemoglobin variant HbVar.2638 protEffect HBA1 107(G13) Leu>Pro HbVar.2638 commonName Hb Charlieu HbVar.2638 ethnic French Caucasian HbVar.2638 phenoCommon Hemoglobin variant HbVar.2639 protEffect HBA1 or HBA2 89(F9) Ala>Glu HbVar.2639 commonName Hb Wroclaw HbVar.2639 ethnic Polish HbVar.2639 phenoCommon Hemoglobin variant HbVar.2640 protEffect HBA1 or HBA2 99(G5) Phe>Tyr HbVar.2640 commonName Hb Mill Hill HbVar.2640 ethnic Black HbVar.2640 phenoCommon Hemoglobin variant HbVar.2641 protEffect HBA1 2(NA1) Val>Leu HbVar.2641 commonName Hb Baldock HbVar.2641 ethnic British HbVar.2641 phenoCommon Hemoglobin variant HbVar.2642 protEffect HBA2 115(GH2) Pro>Thr HbVar.2642 commonName Hb Jura HbVar.2642 alias Hb Bamako HbVar.2642 ethnic French Caucasian HbVar.2642 ethnic West African HbVar.2642 phenoCommon Hemoglobin variant HbVar.2643 protEffect HBA2 5(A2) Pro>Arg HbVar.2643 commonName Hb Goree HbVar.2643 ethnic West African HbVar.2643 phenoCommon Hemoglobin variant HbVar.2644 protEffect HBB 136(H13) Ala>Val HbVar.2644 commonName Hb Alperton HbVar.2644 ethnic Indian HbVar.2644 phenoCommon Hemoglobin variant HbVar.2645 protEffect HBA2 85(F5) Ser>Asn HbVar.2645 commonName Hb Meulan HbVar.2645 ethnic Sicilian HbVar.2645 phenoCommon Hemoglobin variant HbVar.2647 protEffect HBB 134(H11) Val>Met HbVar.2647 commonName Hb La Pommeraie HbVar.2647 ethnic French Caucasian HbVar.2647 phenoCommon Hemoglobin variant HbVar.2649 protEffect HBA1 75(EF3) Asp>Val HbVar.2649 commonName Hb Les Lilas HbVar.2649 ethnic French Caucasian HbVar.2649 phenoCommon Hemoglobin variant HbVar.2650 protEffect HBA1 or HBA2 135(H17) Thr>Ser HbVar.2650 commonName Hb Kenton HbVar.2650 ethnic Pakistani HbVar.2650 phenoCommon Hemoglobin variant HbVar.2651 protEffect HBG1 132(H9) Gln>His HbVar.2651 commonName Hb F-Oman HbVar.2651 ethnic Oman HbVar.2651 phenoCommon Hemoglobin variant HbVar.2652 protEffect HBG1 23(B4) Asp>Asn HbVar.2652 commonName Hb F-Beni Khirane HbVar.2652 ethnic Moroccan HbVar.2652 phenoCommon Hemoglobin variant HbVar.2653 protEffect HBG2 102(G3) Glu>Gln HbVar.2653 commonName Hb F-Zheijang HbVar.2653 phenoCommon Hemoglobin variant HbVar.2654 protEffect HBB 41(C6) Arg>Met HbVar.2654 commonName Hb Taipei-Tien HbVar.2654 ethnic Taiwanese HbVar.2654 phenoCommon Hemoglobin variant HbVar.2656 commonName IVS-II-1(G>A)delta0 HbVar.2656 alias Delta nt494G>A HbVar.2656 phenoCommon delta0 thalassemia HbVar.2659 protEffect HBD Initiation codon Met>Ile HbVar.2659 commonName HBD c.1 G>A HbVar.2659 alias Delta nt53 G>A HbVar.2659 ethnic Chinese HbVar.2659 phenoCommon delta0 thalassemia HbVar.2661 protEffect HBA2 92(FG3) Leu>Phe HbVar.2661 commonName Hb Treviso HbVar.2661 ethnic Italian HbVar.2661 phenoCommon Hemoglobin variant HbVar.2662 protEffect HBB 122(GH 5) Phe>Ser HbVar.2662 commonName Hb Caruaru HbVar.2662 ethnic Brazilian HbVar.2662 phenoCommon Hemoglobin variant HbVar.2663 protEffect HBB 23(B4) - 26(B7) Glu-Val-Gly-Gly->0 HbVar.2663 commonName Hb Olinda HbVar.2663 ethnic Brazilian HbVar.2663 phenoCommon Hemoglobin variant HbVar.2664 protEffect HBB 143 (-CC); modified C-terminal sequence: (143)Ala-Gln-Val-Ser-Leu-Ser-Ser-Leu-Ser-Cys-
Cys-Pro-Ile-Ser-Ile-Lys-Gly-Ser-Phe-Val-
Pro-(163)COOH HbVar.2664 commonName Hb Uzes HbVar.2664 ethnic French HbVar.2664 phenoCommon Hemoglobin variant HbVar.2665 protEffect HBA1 or HBA2 72(E20) Ala>Thr HbVar.2665 commonName Hb Hatfield HbVar.2665 phenoCommon Hemoglobin variant HbVar.2666 protEffect HBB 44(CD2) Glu>Gly HbVar.2666 commonName Hb Haringey HbVar.2666 phenoCommon Hemoglobin variant HbVar.2667 protEffect HBA1 29(B9) Ala>Val HbVar.2667 commonName Hb Nedlands HbVar.2667 ethnic Greek HbVar.2667 phenoCommon Hemoglobin variant HbVar.2668 protEffect HBB 7(A3) Glu>Lys AND HBB 99(FG5) Val>Met HbVar.2668 commonName Hb Kingsbury HbVar.2668 ethnic African HbVar.2668 phenoCommon Hemoglobin variant HbVar.2669 protEffect HBA2 or HBA1 51(CE8) His>Tyr HbVar.2669 commonName Hb South Yorkshire HbVar.2669 ethnic British HbVar.2669 phenoCommon Hemoglobin variant HbVar.2670 protEffect HBA2 or HBA1 111(G17) Ala>Val HbVar.2670 commonName Hb White Rose HbVar.2670 ethnic British HbVar.2670 phenoCommon Hemoglobin variant HbVar.2671 protEffect HBA2 or HBA1 115(GH2) Pro>Ala HbVar.2671 commonName Hb Broomhill HbVar.2671 ethnic Chinese HbVar.2671 phenoCommon Hemoglobin variant HbVar.2672 protEffect HBB 59(E2) Pro>His HbVar.2672 commonName Hb Sheffield HbVar.2672 ethnic British HbVar.2672 ethnic Oman HbVar.2672 phenoCommon Hemoglobin variant HbVar.2673 protEffect HBA1 21(B1) His>Gln HbVar.2673 commonName Hb Brugg HbVar.2673 ethnic Swiss HbVar.2673 phenoCommon Hemoglobin variant HbVar.2674 protEffect HBA1 or HBA2 69(E17) Asn>Tyr HbVar.2674 commonName Hb Chelmsford HbVar.2674 phenoCommon Hemoglobin variant HbVar.2675 protEffect HBA1 or HBA2 39(C3) Thr>Ala HbVar.2675 commonName Hb Beaconsfield HbVar.2675 ethnic English HbVar.2675 phenoCommon Hemoglobin variant HbVar.2676 protEffect HBD 40(C5) Gln>His HbVar.2676 commonName Hb A2-Lyon HbVar.2676 ethnic French HbVar.2676 phenoCommon Hemoglobin variant HbVar.2677 protEffect HBB 6(A2) Pro>Leu HbVar.2677 commonName Hb Aix-les-Bains HbVar.2677 ethnic Italian HbVar.2677 phenoCommon Hemoglobin variant HbVar.2678 protEffect HBA1 116(GH3) Ala>Val HbVar.2678 commonName Hb Palmela HbVar.2678 ethnic Portuguese HbVar.2678 phenoCommon Hemoglobin variant HbVar.2679 protEffect HBA1 133(H15) Val>Met HbVar.2679 commonName Hb Portimao HbVar.2679 ethnic Portuguese HbVar.2679 phenoCommon Hemoglobin variant HbVar.2680 protEffect HBD 75(E18) Gly>Asp HbVar.2680 commonName Hb A2-Asti HbVar.2680 ethnic Italian HbVar.2680 phenoCommon Hemoglobin variant HbVar.2681 protEffect HBD 8(A4) Glu>Asp HbVar.2681 commonName Hb A2-Pordenone HbVar.2681 ethnic Italian HbVar.2681 phenoCommon Hemoglobin variant HbVar.2682 protEffect HBB 5(A1) Thr>Pro HbVar.2682 commonName Hb Benin City HbVar.2682 ethnic Nigerian HbVar.2682 phenoCommon Hemoglobin variant HbVar.2683 protEffect HBB 4(NA3) Leu>Met HbVar.2683 commonName Hb Niguarda HbVar.2683 ethnic Italian HbVar.2683 phenoCommon Hemoglobin variant HbVar.2685 protEffect HBD 3(NA2) His>Asn HbVar.2685 commonName Hb A2 codon 2 (CAT->AAT) HbVar.2685 phenoCommon Hemoglobin variant HbVar.2686 protEffect HBD 53(D3) Asp>His HbVar.2686 commonName Hb A2 codon 52 (GAT>CAT) HbVar.2686 phenoCommon Hemoglobin variant HbVar.2688 protEffect HBD 82(EF5) Leu>Phe HbVar.2688 commonName Hb A2 Saint-Denis HbVar.2688 ethnic Chinese HbVar.2688 phenoCommon Hemoglobin variant HbVar.2690 protEffect HBB 23(B4) Glu>Asp HbVar.2690 commonName Hb beta codon 22 (GAA>GAT) HbVar.2690 phenoCommon Hemoglobin variant HbVar.2691 protEffect HBB 36(C1) Tyr>His HbVar.2691 commonName Hb beta codon 35 (TAC>CAC) HbVar.2691 phenoCommon Hemoglobin variant HbVar.2692 protEffect HBB 43(CD1) Phe>Cys HbVar.2692 commonName Hb beta codon 42 (TTT>TGT) HbVar.2692 phenoCommon Hemoglobin variant HbVar.2693 protEffect HBB 58(E1) Asn>Ser HbVar.2693 commonName Hb beta codon 57 (AAC>AGC) HbVar.2693 phenoCommon Hemoglobin variant HbVar.2694 protEffect HBB 119(GH1) Phe>Ser HbVar.2694 commonName Hb beta codon 118 (TTT>TCT) HbVar.2694 phenoCommon Hemoglobin variant HbVar.2695 protEffect HBA2 71(E19) Val>Gly HbVar.2695 commonName Hb alpha2 codon 70 (GTG>GGG) HbVar.2695 phenoCommon Hemoglobin variant HbVar.2696 protEffect HBA1 87(F7) Leu>Val HbVar.2696 commonName Hb alpha1 codon 86 (CTG>GTG) HbVar.2696 phenoCommon Hemoglobin variant HbVar.2697 protEffect HBA2 117(GH4) Glu>Val HbVar.2697 commonName Hb alpha2 codon 116 (GAG>GTG) HbVar.2697 phenoCommon Hemoglobin variant HbVar.2698 protEffect HBA2 128(H10) Lys>Glu HbVar.2698 commonName Hb alpha2 codon 127 (AAG-GAG) HbVar.2698 phenoCommon Hemoglobin variant HbVar.2700 commonName -88 (C>G) HbVar.2700 phenoCommon beta (0 or + unclear) thalassemia HbVar.2701 commonName -71 (C>T) HbVar.2701 phenoCommon beta (0 or + unclear) thalassemia HbVar.2702 commonName -30 T>G HbVar.2702 phenoCommon beta (0 or + unclear) thalassemia HbVar.2703 commonName Codon 5/6 (-TG) HbVar.2703 phenoCommon beta (0 or + unclear) thalassemia HbVar.2705 protEffect HBB 74(+T); modified C-terminal sequence: (74)stop codon HbVar.2705 commonName Codon 72/73 (+T) HbVar.2705 phenoCommon beta (0 or + unclear) thalassemia HbVar.2706 commonName IVS2-2 (-TGAGTCTATGGG) HbVar.2706 phenoCommon beta (0 or + unclear) thalassemia HbVar.2707 commonName IVS2-781 C>G HbVar.2707 phenoCommon beta (0 or + unclear) thalassemia HbVar.2708 commonName A Gamma -197 C>T HbVar.2708 phenoCommon HPFH thalassemia HbVar.2709 commonName G Gamma -197 C>T HbVar.2709 phenoCommon HPFH thalassemia HbVar.2710 commonName -50 G>A HbVar.2710 phenoCommon beta+ thalassemia HbVar.2711 commonName -26 A>C HbVar.2711 phenoCommon beta (0 or + unclear) thalassemia HbVar.2713 protEffect HBB 107(G8) - 110(G11) Leu-Gly-Asn-Val->0 HbVar.2713 commonName Codon 106 (-CTGGGCAACGTG) HbVar.2713 phenoCommon beta (0 or + unclear) thalassemia HbVar.2714 protEffect HBB 116(+TGTGCTG); modified C-terminal sequence: (116)Cys-Ala-Gly-Pro-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-
Thr-Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-
Gly-Trp-Cys-Gly-(141)COOH HbVar.2714 commonName Codon 114 (+TGTGCTG) HbVar.2714 phenoCommon beta (0 or + unclear) thalassemia HbVar.2715 protEffect HBB 118 (-C); modified C-terminal sequence: (118)His-Leu-Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-
Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-
Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-
Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-(157)COOH HbVar.2715 commonName Codon 117 (-C) HbVar.2715 phenoCommon beta (0 or + unclear) thalassemia HbVar.2716 protEffect HBB 126(H3) - 127(H4) Pro-Val->0 HbVar.2716 commonName Codon 125 (-CCAGTG) HbVar.2716 phenoCommon beta (0 or + unclear) thalassemia HbVar.2717 protEffect HBB 131(H8) Tyr>Stop HbVar.2717 commonName Codon 130 (TAT->TAA) HbVar.2717 phenoCommon beta (0 or + unclear) thalassemia HbVar.2718 protEffect HBB 132(+A); modified C-terminal sequence: (132)Gln-Glu-Ser-Gly-Gly-Trp-Cys-Gly-(139)COOH HbVar.2718 commonName Codon 131 (+A) HbVar.2718 phenoCommon beta (0 or + unclear) thalassemia HbVar.2720 commonName Poly A (A->T) AATAAA>AATATA HbVar.2720 phenoCommon beta (0 or + unclear) thalassemia HbVar.2721 commonName Poly A (-AA) HbVar.2721 phenoCommon beta (0 or + unclear) thalassemia HbVar.2722 commonName alpha1 Poly A (AATAAAG->AATAAAA) HbVar.2722 phenoCommon alpha-1 thalassemia HbVar.2723 protEffect HBA1 105(G11) Cys>Trp HbVar.2723 commonName alpha1 Codon 104 (TGC>TGG) [Cys>Trp] HbVar.2723 phenoCommon alpha-1 thalassemia HbVar.2724 protEffect HBA1 109 (-C); modified C-terminal sequence: (109)Thr-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser-Ser-
Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr-Ser-
Ser-Trp-Leu-Leu-(132)COOH HbVar.2724 commonName alpha1 Codon 108 (-C) HbVar.2724 phenoCommon alpha-1 thalassemia HbVar.2725 commonName alpha1 Codon 124-128 (-13bp) HbVar.2725 phenoCommon alpha-1 thalassemia HbVar.2726 protEffect HBA2 38 (-C); modified C-terminal sequence HbVar.2726 commonName alpha2 Codon 37 (-C) HbVar.2726 phenoCommon alpha-2 thalassemia HbVar.2727 protEffect HBA2 23(+T); modified C-terminal sequence: (23)Trp-Arg-Val-Trp-Cys-Gly-Gly-Pro-Gly-Glu-
Asp-Val-Pro-Val-Leu-Pro-His-His-Gln-Asp-
Leu-Leu-Pro-Ala-Leu-Arg-Pro-Glu-Pro-Arg-
Leu-Cys-Pro-Gly-(56)COOH HbVar.2727 commonName alpha2 Codon 21/22 (+T) HbVar.2727 phenoCommon alpha-2 thalassemia HbVar.2728 protEffect HBA2 48 (-A); modified C-terminal sequence: (48)Ala-(48)COOH HbVar.2728 commonName alpha2 Codon 47 (-A) HbVar.2728 phenoCommon alpha-2 thalassemia HbVar.2729 protEffect HBA2 53(+G); modified C-terminal sequence: (53)Val-Cys-Pro-Gly-(56)COOH HbVar.2729 commonName alpha2 Codon 51/52 (+G) HbVar.2729 phenoCommon alpha-2 thalassemia HbVar.2730 protEffect HBA2 64(E12) - 77(EF5) Ala-Asp-Ala-Leu-Thr-Asn-Ala-Val-Ala-His-Val-Asp-Asp-Met->0 HbVar.2730 commonName alpha2 Codon 63-76 (-42bp) HbVar.2730 phenoCommon alpha-2 thalassemia HbVar.2731 commonName hg19 chr16:g.(?_103625)_(163701_193676)del HbVar.2731 alias deletion of HS-40 region HbVar.2731 phenoCommon alpha (1 or 2 unclear) thalassemia HbVar.2732 protEffect HBA2 102(G8) Leu>Pro HbVar.2732 commonName alpha2 Codon 101 (CTA>CCA) HbVar.2732 phenoCommon alpha-2 thalassemia HbVar.2733 protEffect HBB 31(B12) Arg>Arg HbVar.2733 commonName Codon 30 A>C [IVSI (-2) HbVar.2733 phenoCommon beta (0 or + unclear) thalassemia HbVar.2734 protEffect HBA2 32(B12) Arg>Lys HbVar.2734 commonName alpha2 Codon 31 (AGG>AAG) HbVar.2734 phenoCommon alpha-2 thalassemia HbVar.2735 protEffect HBB 126(+A); modified C-terminal sequence: (126)Thr-Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-
Gly-Trp-Cys-Gly-(139)COOH HbVar.2735 commonName Codon 124/125(+A) HbVar.2735 phenoCommon beta (0 or + unclear) thalassemia HbVar.2736 protEffect HBA1 63 (-G); modified C-terminal sequence: (63)Val-Pro-Thr-Arg-(66)COOH HbVar.2736 commonName Codon 62 (-G) HbVar.2736 phenoCommon alpha-1 thalassemia HbVar.2737 protEffect HBA2 15(A12) Trp>Leu HbVar.2737 commonName Hb Codon 14 (TGG>TTG) HbVar.2737 phenoCommon alpha-2 thalassemia HbVar.2738 commonName Afghan deletion beta0 (909 bp del) HbVar.2738 phenoCommon beta0 thalassemia HbVar.2740 protEffect HBD 145(HC1) Lys>Thr HbVar.2740 commonName Hb A2-San Floro HbVar.2740 ethnic Italian HbVar.2740 phenoCommon Hemoglobin variant HbVar.2741 protEffect HBA2 98(G4) Asn>Asp HbVar.2741 commonName Hb Cheektowaga HbVar.2741 ethnic Polish HbVar.2741 phenoCommon Hemoglobin variant HbVar.2742 protEffect HBA2 22(B2) Ala>Val HbVar.2742 commonName Hb Venetia HbVar.2742 ethnic American HbVar.2742 phenoCommon Hemoglobin variant HbVar.2743 protEffect Leu- inserted between codons 3(NA2) and 4(A1) of HBA1 HbVar.2743 commonName Hb Pittsburgh HbVar.2743 ethnic American HbVar.2743 phenoCommon Hemoglobin variant HbVar.2744 protEffect HBA1 19(A16) Gly>Cys HbVar.2744 commonName Hb Lima HbVar.2744 phenoCommon Hemoglobin variant HbVar.2746 protEffect HBD 91(F6) Glu>Gly HbVar.2746 commonName Hb A2-India HbVar.2746 ethnic Indian HbVar.2746 phenoCommon Hemoglobin variant HbVar.2747 protEffect HBA2 86(F6) Asp>Gly HbVar.2747 commonName Hb Benton HbVar.2747 ethnic Caucasian HbVar.2747 phenoCommon Hemoglobin variant HbVar.2748 protEffect HBA2 123(H5) His>Leu HbVar.2748 commonName Hb Dubai HbVar.2748 ethnic United Arab Emirates HbVar.2748 phenoCommon Hemoglobin variant HbVar.2749 protEffect HBA1 111(G17) Ala>Val HbVar.2749 commonName Hb Montluel HbVar.2749 alias Hb White Rose HbVar.2749 ethnic French Caucasian HbVar.2749 phenoCommon Hemoglobin variant HbVar.2750 protEffect HBA2 25(B5) Tyr>Stop HbVar.2750 commonName Codon 24 (T>G) HbVar.2750 ethnic African-American HbVar.2750 phenoCommon alpha-2 thalassemia HbVar.2751 protEffect HBA1 97(G3) Val>Leu HbVar.2751 commonName Hb Woodstock HbVar.2751 ethnic Caucasian HbVar.2751 phenoCommon Hemoglobin variant HbVar.2752 protEffect HBA1 72(E20) Ala>Val HbVar.2752 commonName Hb Allison Park HbVar.2752 ethnic Caucasian HbVar.2752 phenoCommon Hemoglobin variant HbVar.2753 protEffect HBB 4(NA3) Leu>Pro HbVar.2753 commonName Hb Jabalpur HbVar.2753 ethnic Pakistani HbVar.2753 phenoCommon Hemoglobin variant HbVar.2754 protEffect HBA2 113(G19) His>Tyr HbVar.2754 commonName Hb Kansas City HbVar.2754 ethnic Caucasian HbVar.2754 phenoCommon Hemoglobin variant HbVar.2756 protEffect HBA2 3(NA2) Leu>Pro HbVar.2756 commonName Hb Kaiser West End HbVar.2756 ethnic Caucasian HbVar.2756 phenoCommon Hemoglobin variant HbVar.2757 protEffect HBA2 64(E12) Ala>Val HbVar.2757 commonName Hb Aberystwyth HbVar.2757 alias Hb Nakhon Ratchsima HbVar.2757 ethnic Thai HbVar.2757 phenoCommon Hemoglobin variant HbVar.2758 protEffect HBD 120(GH2) Gly>Asp HbVar.2758 commonName Hb A2-Lewisburg HbVar.2758 ethnic Italian HbVar.2758 phenoCommon Hemoglobin variant HbVar.2759 protEffect HBA2 88(F8) His>Gln HbVar.2759 commonName Hb Lansing HbVar.2759 ethnic African-American HbVar.2759 ethnic Caucasian HbVar.2759 ethnic Mexican HbVar.2759 phenoCommon Hemoglobin variant HbVar.2760 protEffect HBB 145(HC1) Lys-Tyr-His->0 HbVar.2760 commonName Hb Cambridge-MA HbVar.2760 ethnic Caucasian HbVar.2760 ethnic German HbVar.2760 phenoCommon Hemoglobin variant HbVar.2761 protEffect HBA1 16(A13) Gly>Cys HbVar.2761 commonName Hb St. Rose HbVar.2761 ethnic Indian HbVar.2761 ethnic Pakistani HbVar.2761 phenoCommon Hemoglobin variant HbVar.2762 protEffect HBA2 113(G19) His>Asn HbVar.2762 commonName Hb Royal Oak HbVar.2762 ethnic Caucasian HbVar.2762 ethnic Northern European HbVar.2762 phenoCommon Hemoglobin variant HbVar.2763 protEffect HBA2 89(F9) Ala>Thr HbVar.2763 commonName Hb Voorhees HbVar.2763 ethnic Caucasian HbVar.2763 ethnic European HbVar.2763 phenoCommon Hemoglobin variant HbVar.2764 protEffect HBA2 24(B4) Glu>Ala HbVar.2764 commonName Hb Dayton HbVar.2764 ethnic African-American HbVar.2764 phenoCommon Hemoglobin variant HbVar.2765 protEffect HBA2 116(GH3) Ala->0 HbVar.2765 commonName Hb Towson HbVar.2765 ethnic Caucasian HbVar.2765 ethnic Northern European HbVar.2765 phenoCommon Hemoglobin variant HbVar.2766 protEffect HBA2 100(G6) Lys>Asn HbVar.2766 commonName Hb Fulton HbVar.2766 ethnic African-American HbVar.2766 phenoCommon Hemoglobin variant HbVar.2768 protEffect HBA2 4(A1) Ser>Cys HbVar.2768 commonName Hb Teterboro HbVar.2768 ethnic African-American HbVar.2768 phenoCommon Hemoglobin variant HbVar.2769 protEffect HBA2 87(F7) Leu>Val HbVar.2769 commonName Hb Ridgewood HbVar.2769 phenoCommon Hemoglobin variant HbVar.2770 protEffect HBB 27(B8) Glu>Gln HbVar.2770 commonName Hb King's Mill HbVar.2770 phenoCommon Hemoglobin variant HbVar.2771 protEffect HBA2 38(C2) Pro>Ser HbVar.2771 commonName Hb Boskoop HbVar.2771 phenoCommon Hemoglobin variant HbVar.2772 protEffect HBB 17(A13) Gly>Cys HbVar.2772 commonName Hb Whitmire HbVar.2772 ethnic African-American HbVar.2772 phenoCommon Hemoglobin variant HbVar.2775 protEffect HBA2 97(G3) Val>Ile HbVar.2775 commonName Hb El Salvador HbVar.2775 ethnic Hispanic HbVar.2775 phenoCommon Hemoglobin variant HbVar.2776 protEffect HBA2 31(B11) Glu->0 HbVar.2776 commonName Alpha2 Codon 30 del GAG HbVar.2776 ethnic Caucasian HbVar.2776 ethnic European HbVar.2776 phenoCommon alpha-2 thalassemia HbVar.2777 protEffect HBD 83(EF6) Lys>Stop HbVar.2777 commonName Codon 82 (AAG->TAG) delta0 HbVar.2777 ethnic Indonesian HbVar.2777 phenoCommon delta (0 or + unclear) thalassemia HbVar.2778 commonName IVS I-45 G>C HbVar.2778 phenoCommon alpha-1 thalassemia HbVar.2779 protEffect HBA2 47(CE4) Phe>Ser HbVar.2779 commonName Hb Lake Tapawingo HbVar.2779 ethnic Caucasian HbVar.2779 phenoCommon Hemoglobin variant HbVar.2780 protEffect HBA1 113(G19) His>Gln HbVar.2780 commonName Hb West Allis HbVar.2780 ethnic African-American HbVar.2780 phenoCommon Hemoglobin variant HbVar.2781 protEffect HBD 7(A3) Glu>Gln HbVar.2781 commonName Hb A2-Ramallah HbVar.2781 phenoCommon Hemoglobin variant HbVar.2782 protEffect HBB 7(A3) Glu>Val AND HBB 106(G7) Leu>Pro HbVar.2782 commonName Hb S-San Martin HbVar.2782 ethnic Argentine HbVar.2782 phenoCommon Hemoglobin variant HbVar.2783 protEffect HBA1 15(A12) Trp>Leu HbVar.2783 commonName Hb Basel HbVar.2783 ethnic Portuguese HbVar.2783 phenoCommon Hemoglobin variant HbVar.2784 protEffect HBA1 33(B13) Met>Lys HbVar.2784 commonName Hb Queens Park HbVar.2784 ethnic Australian HbVar.2784 phenoCommon Hemoglobin variant HbVar.2785 protEffect HBB 7(A3) Glu>Val AND HBB 9(A5) Lys>Thr HbVar.2785 commonName Hb S-Clichy HbVar.2785 phenoCommon Hemoglobin variant HbVar.2788 protEffect HBG1 120(GH2) Gly>Ser HbVar.2788 commonName Hb F-Osilo HbVar.2788 phenoCommon Hemoglobin variant HbVar.2790 protEffect HBG2 81(EF4) Asp>Tyr HbVar.2790 commonName Hb F-Paulinia HbVar.2790 phenoCommon Hemoglobin variant HbVar.2791 protEffect HBB 8(A4) Glu>Asp HbVar.2791 commonName Hb Stockholm HbVar.2791 phenoCommon Hemoglobin variant HbVar.2792 protEffect HBA2 8(A5) Lys>Gln HbVar.2792 commonName Hb J-Brainerd HbVar.2792 ethnic Scandinavian HbVar.2792 phenoCommon Hemoglobin variant HbVar.2794 protEffect HBA2 8(A5) Lys>Thr HbVar.2794 commonName Hb Nayarit HbVar.2794 ethnic Mexican HbVar.2794 phenoCommon Hemoglobin variant HbVar.2795 protEffect HBA1 43(C7) Tyr>Ser HbVar.2795 commonName Hb Erzeroum HbVar.2795 ethnic Turkish HbVar.2795 phenoCommon Hemoglobin variant HbVar.2796 protEffect HBA1 14(A11) Ala>Thr HbVar.2796 commonName Hb Olivet HbVar.2796 ethnic French HbVar.2796 phenoCommon Hemoglobin variant HbVar.2797 protEffect HBB 81(EF4) Asn>His HbVar.2797 commonName Hb East Timor HbVar.2797 phenoCommon Hemoglobin variant HbVar.2798 protEffect HBB 68(E11) Val>Met AND HBB 42(C7) Phe>Leu HbVar.2798 commonName Hb Brevedent HbVar.2798 ethnic French HbVar.2798 phenoCommon Hemoglobin variant HbVar.2800 protEffect HBA1 21(+T); modified C-terminal sequence: (21)His-Arg-Trp-Arg-Val-Trp-Cys-Gly-Gly-Pro-
Gly-Glu-Asp-Val-Pro-Val-Leu-Pro-His-His-
Gln-Asp-Leu-Leu-Pro-Ala-Leu-Arg-Pro-Glu-
Pro-Arg-Leu-Cys-Pro-Gly-(56)COOH HbVar.2800 commonName Hb alpha1 codon20(+T) HbVar.2800 ethnic French HbVar.2800 phenoCommon Thalassemia HbVar.2801 protEffect HBA2 91(FG2) Lys>Gln HbVar.2801 commonName Hb Bergerac HbVar.2801 ethnic French Caucasian HbVar.2801 phenoCommon Hemoglobin variant HbVar.2802 protEffect HBB 135(H12) Val>Gly HbVar.2802 commonName Hb Olupona HbVar.2802 ethnic Nigerian HbVar.2802 phenoCommon Hemoglobin variant HbVar.2803 protEffect HBA2 90(FG1) His>Gln HbVar.2803 commonName Hb Enfield HbVar.2803 ethnic African HbVar.2803 phenoCommon Hemoglobin variant HbVar.2804 protEffect HBB 81(EF4) Asn>Asp HbVar.2804 commonName Hb Valley park HbVar.2804 ethnic Caucasian HbVar.2804 phenoCommon Hemoglobin variant HbVar.2806 protEffect HBD 144(H21) His>Tyr HbVar.2806 commonName Hb Noah Mehmet Oeztuerk HbVar.2806 ethnic Turkish HbVar.2806 phenoCommon Hemoglobin variant HbVar.2807 protEffect Ggamma-beta hybrid (HBG2 through 14; HBB from 21) HbVar.2807 commonName Hb Ulsan HbVar.2807 ethnic Korean HbVar.2807 phenoCommon Hemoglobin variant HbVar.2808 protEffect HBB 40 (-A); modified C-terminal sequence: (40)Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-
Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-
Arg-(60)COOH HbVar.2808 commonName Codon 39 (-A) HbVar.2808 phenoCommon beta0 thalassemia HbVar.2809 protEffect HBG2 147(HC3) His>Arg HbVar.2809 commonName Hb F-Istambul HbVar.2809 ethnic Turkish HbVar.2809 phenoCommon Hemoglobin variant HbVar.2810 protEffect HBG2 94(F9) Cys>Arg HbVar.2810 commonName Hb F-Monserrato-Sassari HbVar.2810 ethnic Sardinian HbVar.2810 phenoCommon Hemoglobin variant HbVar.2811 protEffect HBG1 122(GH4) Glu>Val HbVar.2811 commonName Hb F-Salamanque HbVar.2811 ethnic Spanish HbVar.2811 phenoCommon Hemoglobin variant HbVar.2812 protEffect HBA1 or HBA2 55(E3) Gln>His HbVar.2812 commonName Hb PRINCES RISBOROUGH HbVar.2812 ethnic Asian HbVar.2812 phenoCommon Hemoglobin variant HbVar.2813 protEffect HBA1 or HBA2 86(F6) Asp>Glu HbVar.2813 commonName Hb AYLESBURY HbVar.2813 phenoCommon Hemoglobin variant HbVar.2814 protEffect HBB 101(G2) Pro>Thr HbVar.2814 commonName Hb Bellevue II HbVar.2814 ethnic African-American HbVar.2814 phenoCommon Hemoglobin variant HbVar.2815 protEffect HBB 8(A4) Glu>Gln HbVar.2815 commonName Hb Bellevue III HbVar.2815 alias Hb Vellore HbVar.2815 ethnic African-American HbVar.2815 phenoCommon Hemoglobin variant HbVar.2816 protEffect HBB 73(E16) Ser>Thr HbVar.2816 commonName Hb PHIMAI HbVar.2816 phenoCommon Hemoglobin variant HbVar.2817 protEffect HBA1 32(B12) Arg>Thr HbVar.2817 commonName Hb Mao HbVar.2817 ethnic Italian HbVar.2817 phenoCommon Hemoglobin variant HbVar.2818 protEffect HBB 27(B8) Glu>Asp HbVar.2818 commonName Hb Marijampole HbVar.2818 phenoCommon Hemoglobin variant HbVar.2819 protEffect HBB 106(G7) Leu>Pro HbVar.2819 commonName Hb Bellevue IV HbVar.2819 ethnic Hispanic HbVar.2819 phenoCommon Hemoglobin variant HbVar.2820 protEffect HBB 78(EF1) His>Asn HbVar.2820 commonName Hb Heilbronn HbVar.2820 ethnic German HbVar.2820 phenoCommon Hemoglobin variant HbVar.2822 protEffect HBB 105(G6) Arg>Gly HbVar.2822 commonName Hb Nimes HbVar.2822 ethnic French Caucasian HbVar.2822 phenoCommon Hemoglobin variant HbVar.2823 protEffect HBB 49 - 56 (-TCCACTCCTGATGCTGTTA); modified C-terminal sequence AND HBB 50(+AGCT); modified C-terminal sequence HbVar.2823 commonName Hb Martinez HbVar.2823 ethnic American Indian HbVar.2823 ethnic Caucasian HbVar.2823 phenoCommon beta (0 or + unclear) thalassemia HbVar.2825 protEffect HBA1 127(H9) Asp>Ala HbVar.2825 commonName Hb Verdun HbVar.2825 ethnic French Caucasian HbVar.2825 phenoCommon Hemoglobin variant HbVar.2826 protEffect HBA2 60(E8) Gly>Ser HbVar.2826 commonName Hb Parma [A2] HbVar.2826 ethnic Portuguese HbVar.2826 phenoCommon Hemoglobin variant HbVar.2827 protEffect HBB 120(GH2) Gly>Arg HbVar.2827 commonName Hb Angouleme HbVar.2827 ethnic French Caucasian HbVar.2827 phenoCommon Hemoglobin variant HbVar.2828 protEffect HBB 105(G6) Arg>Met HbVar.2828 commonName Hb Bad Salzuflen HbVar.2828 ethnic German HbVar.2828 phenoCommon Hemoglobin variant HbVar.2829 protEffect HBB 116(G17) Ala>Val HbVar.2829 commonName Hb Roma HbVar.2829 ethnic Italian HbVar.2829 phenoCommon Hemoglobin variant HbVar.2830 protEffect HBB 101(G2) Pro>Ser HbVar.2830 commonName Hb Niort HbVar.2830 ethnic French HbVar.2830 phenoCommon Hemoglobin variant HbVar.2832 protEffect HBA2 108 (-T); modified C-terminal sequence: (108)Gly-Pro-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser-
Ser-Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr-
Ser-Ser-Trp-Leu-Leu-(132)COOH HbVar.2832 commonName Hb Lynwood HbVar.2832 ethnic Sudanese HbVar.2832 phenoCommon Hemoglobin variant HbVar.2833 protEffect HBD 30(B11) Gly>Asp HbVar.2833 commonName Hb A2 Hong Kong HbVar.2833 phenoCommon Hemoglobin variant HbVar.2834 protEffect HBA2 23(B3) - 26(B6) Gly-Glu-Tyr-Gly->0 AND inserted Gly HbVar.2834 commonName Hb Zhanjiang HbVar.2834 ethnic Chinese HbVar.2834 phenoCommon Hemoglobin variant HbVar.2835 protEffect HBB 90(F5) Ser>Arg HbVar.2835 commonName Hb Vanderbilt II HbVar.2835 phenoCommon Hemoglobin variant HbVar.2836 protEffect HBB 7(A3) Glu>Val AND HBB 66(E9) Lys>Glu HbVar.2836 commonName Hb S-Sao Paulo HbVar.2836 ethnic Brazilian HbVar.2836 phenoCommon Hemoglobin variant HbVar.2837 protEffect HBB 94(F9) Cys>Trp HbVar.2837 commonName Hb Santa Giusta Sardegna HbVar.2837 phenoCommon Hemoglobin variant HbVar.2838 protEffect HBB 94(F9) Cys>Ser HbVar.2838 commonName Hb Riesa HbVar.2838 phenoCommon Hemoglobin variant HbVar.2839 protEffect HBB 82(EF5) Leu>Phe HbVar.2839 commonName Hb Seville HbVar.2839 ethnic Spanish HbVar.2839 phenoCommon Hemoglobin variant HbVar.2840 protEffect HBA2 64(E12) Ala>Val HbVar.2840 commonName Hb Nakhon Ratchasima HbVar.2840 alias Hb Aberystwyth HbVar.2840 phenoCommon Hemoglobin variant HbVar.2841 protEffect HBA2 9 (-C); modified C-terminal sequence: (9)Thr-Thr-Ser-Arg-Pro-Pro-Gly-Val-Arg-Ser-
Ala-Arg-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg-
Pro-Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro-
Pro-Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(49)COOH HbVar.2841 commonName Hb Codon 8 (-C); ACC (Thr)>AC- Alpha0 HbVar.2841 phenoCommon Thalassemia HbVar.2842 protEffect HBB 99(FG5) Val>Leu HbVar.2842 commonName Hb Phou Bia HbVar.2842 ethnic Laotian HbVar.2842 phenoCommon Hemoglobin variant HbVar.2843 protEffect HBA1 101(G7) Leu>Pro HbVar.2843 commonName Hb Corsica HbVar.2843 ethnic Caucasian HbVar.2843 ethnic Mediterranean HbVar.2843 phenoCommon Hemoglobin variant HbVar.2844 protEffect HBA1 or HBA2 125(H7) Ser>Phe HbVar.2844 commonName Hb Batley HbVar.2844 ethnic Pakistani HbVar.2844 phenoCommon Hemoglobin variant HbVar.2845 protEffect HBA2 132(H14) Ser>Cys HbVar.2845 commonName Hb Cap-d'Agde HbVar.2845 ethnic Caucasian HbVar.2845 phenoCommon Hemoglobin variant HbVar.2846 protEffect OR HBB 81(EF4) Asn->0 HbVar.2846 commonName Hb Saint-Chamond HbVar.2846 ethnic Mediterranean HbVar.2846 phenoCommon Hemoglobin variant HbVar.2847 protEffect HBA2 86(F6) Asp>His HbVar.2847 commonName Hb Canuts [A2] HbVar.2847 phenoCommon Hemoglobin variant HbVar.2848 protEffect HBD 23(B4) Ala>Lys HbVar.2848 commonName Hb A2-Marseille HbVar.2848 ethnic Armenian HbVar.2848 phenoCommon Hemoglobin variant HbVar.2849 protEffect HBD 15(A11) Leu>Pro HbVar.2849 commonName Hb A2-Saint-Etienne HbVar.2849 ethnic Turkish HbVar.2849 phenoCommon delta+ thalassemia HbVar.2850 protEffect HBG2 2(NA1) Gly>Ser HbVar.2850 commonName Hb F-Montchat HbVar.2850 ethnic African HbVar.2850 phenoCommon Hemoglobin variant HbVar.2851 protEffect HBG2 137(H14) Gly>Glu HbVar.2851 commonName Hb F-Privas HbVar.2851 ethnic Caucasian HbVar.2851 phenoCommon Hemoglobin variant HbVar.2853 protEffect HBA1 126(H8) Leu>Pro HbVar.2853 commonName Hb Quong Sze II HbVar.2853 ethnic Caucasian HbVar.2853 phenoCommon Thalassemia HbVar.2854 protEffect HBA2 44 (-T); modified C-terminal sequence HbVar.2854 commonName Codon 43 (-T) HbVar.2854 ethnic African HbVar.2854 phenoCommon alpha-2 thalassemia HbVar.2855 protEffect HBG1 92(F7) Leu>Arg HbVar.2855 commonName Hb F-Moyen-Orient HbVar.2855 phenoCommon Hemoglobin variant HbVar.2856 protEffect HBB 39(C4) Thr>Ser HbVar.2856 commonName Hb Grove City HbVar.2856 ethnic Caucasian HbVar.2856 phenoCommon Hemoglobin variant HbVar.2857 protEffect HBB 26(B7) Gly>Ser HbVar.2857 commonName Hb Brazzaville HbVar.2857 ethnic Congolese HbVar.2857 phenoCommon Hemoglobin variant HbVar.2858 protEffect HBG1 126(H3) Glu>Ala HbVar.2858 commonName Hb F-Port-Royal II HbVar.2858 ethnic African HbVar.2858 phenoCommon Hemoglobin variant HbVar.2859 protEffect HBB 87(F2) Ala>Val HbVar.2859 commonName Hb Izmir HbVar.2859 phenoCommon Hemoglobin variant HbVar.2860 protEffect HBB 121 (-A); modified C-terminal sequence HbVar.2860 commonName Hb Filottrano HbVar.2860 phenoCommon Hemoglobin variant HbVar.2861 protEffect HBA1 65(E13) Asp>Ala HbVar.2861 commonName Hb Lucan HbVar.2861 ethnic Polish HbVar.2861 phenoCommon Hemoglobin variant HbVar.2862 protEffect HBB 64(E7) His>Leu HbVar.2862 commonName Hb Temple Street HbVar.2862 ethnic Polish HbVar.2862 phenoCommon Hemoglobin variant HbVar.2863 protEffect HBA2 124(H6) Ala>Val HbVar.2863 commonName Hb Pressath HbVar.2863 ethnic German HbVar.2863 phenoCommon Hemoglobin variant HbVar.2864 protEffect HBA2 52(CE9) Gly>Ser HbVar.2864 commonName Hb Riccarton - II HbVar.2864 ethnic French HbVar.2864 phenoCommon Hemoglobin variant HbVar.2865 protEffect HBG2 106(G7) Leu>His HbVar.2865 commonName Hb F-Feldkirch HbVar.2865 alias HbF-Brugine HbVar.2865 ethnic Austrian HbVar.2865 phenoCommon Hemoglobin variant HbVar.2866 protEffect HBA2 Initiation codon Met>Arg HbVar.2866 commonName alpha2 ATG>AGG HbVar.2866 ethnic Iranian HbVar.2866 phenoCommon alpha-2 thalassemia HbVar.2867 protEffect HBA2 116 - 120 (-GAGTTCACCCC); modified C-terminal sequence HbVar.2867 commonName HBA2:c.349_359delGAGTTCACCCC HbVar.2867 ethnic Pakistani HbVar.2867 phenoCommon alpha-2 thalassemia HbVar.2869 protEffect HBA1 100(G6) Lys>Met HbVar.2869 commonName HBA1:c.301-2A>T HbVar.2869 ethnic Argentine HbVar.2869 phenoCommon alpha-2 thalassemia HbVar.2870 commonName HBB:c.20_45del26 HbVar.2870 ethnic Indian HbVar.2870 phenoCommon beta0 thalassemia HbVar.2870 hap ------++ HbVar.2871 protEffect HBA2 or HBA1 32 (-AG); modified C-terminal sequence HbVar.2871 commonName Alpha-3.7KbAllele:c.94_95delAG HbVar.2871 ethnic African-American HbVar.2871 phenoCommon alpha-1 thalassemia HbVar.2872 commonName Algerian HPFH deletion HbVar.2872 ethnic Algerian HbVar.2872 phenoCommon HPFH thalassemia HbVar.2873 commonName French HPFH deletion HbVar.2873 ethnic French HbVar.2873 phenoCommon HPFH thalassemia HbVar.2874 commonName French West-Indies HPFH deletion HbVar.2874 ethnic French West Indies HbVar.2874 phenoCommon HPFH thalassemia HbVar.2875 commonName Kabylian deletion-insertion HbVar.2875 phenoCommon beta0 thalassemia HbVar.2879 commonName -125 bp deletion HbVar.2879 phenoCommon beta0 thalassemia HbVar.2880 commonName -7719 bp del HbVar.2880 phenoCommon beta0 thalassemia HbVar.2881 protEffect HBA2 105(G11) Cys>Arg HbVar.2881 commonName Hb Iberia HbVar.2881 ethnic Spanish HbVar.2881 phenoCommon alpha-2 thalassemia HbVar.2882 protEffect HBD 144(H21) His>Asp HbVar.2882 commonName Hb A2-Leuven HbVar.2882 ethnic Belgian HbVar.2882 phenoCommon Hemoglobin variant HbVar.2883 protEffect HBB 79(EF2) Leu>Val HbVar.2883 commonName Hb Ullevaal HbVar.2883 ethnic Bosnian HbVar.2883 phenoCommon Hemoglobin variant HbVar.2885 protEffect HBB 43(CD1) Phe>Ile HbVar.2885 commonName Hb Oslo HbVar.2885 ethnic Norwegian HbVar.2885 phenoCommon Hemoglobin variant HbVar.2886 protEffect HBB 72 (-T); modified C-terminal sequence: (72)Leu-Val-Met-Ala-Trp-Leu-Thr-Trp-Thr-Thr-
Ser-Arg-Ala-Pro-Leu-Pro-His-(88)COOH HbVar.2886 commonName HBB:c.216delT HbVar.2886 ethnic Greek HbVar.2886 phenoCommon beta0 thalassemia HbVar.2887 commonName 3'UTR +101 G>C HbVar.2887 ethnic Pakistani HbVar.2887 phenoCommon Thalassemia HbVar.2888 protEffect HBB 16(A12) Trp>Cys HbVar.2888 commonName Hb Garston HbVar.2888 ethnic British HbVar.2888 phenoCommon Hemoglobin variant HbVar.2889 protEffect HBA2 20 (-G); modified C-terminal sequence: (20)Ala-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg-Pro-
Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro-Pro-
Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(48)COOH HbVar.2889 commonName HBA2:c.60delG HbVar.2889 alias Codon20(-G) HbVar.2889 ethnic Iraqi HbVar.2889 phenoCommon alpha-2 thalassemia HbVar.2890 commonName NG_000007.3:g.(63154-63209)-(70570-70625)del7417 HbVar.2890 alias Senegalese delta0beta+-thalassemia HbVar.2890 ethnic Mediterranean HbVar.2890 phenoCommon (delta-beta)0 thalassemia HbVar.2891 protEffect HBA2 100(G6) Lys>Gln HbVar.2891 commonName Hb Burkina Fassa HbVar.2891 ethnic African-American HbVar.2891 phenoCommon Hemoglobin variant HbVar.2892 commonName IVS-II-765 L1 HbVar.2892 ethnic Ukrainian HbVar.2892 phenoCommon beta+ thalassemia HbVar.2893 protEffect HBA1 or HBA2 53(E1) Ser>Ala HbVar.2893 commonName Hb Cheshire HbVar.2893 phenoCommon Hemoglobin variant HbVar.2895 protEffect HBA2 100(G6) Lys>Arg HbVar.2895 commonName Hb PAPANUI HbVar.2895 ethnic New Zealand HbVar.2895 phenoCommon Hemoglobin variant HbVar.2897 protEffect HBD 47(CD5) Gly>Glu HbVar.2897 commonName Hb A2-Tunis HbVar.2897 ethnic Tunisian HbVar.2897 phenoCommon Hemoglobin variant HbVar.2898 protEffect HBB 142(H19) Leu>Val HbVar.2898 commonName Hb Aurillac HbVar.2898 alias Codon 141 (C->G) CTG-GTG HbVar.2898 ethnic Caucasian HbVar.2898 phenoCommon Hemoglobin variant HbVar.2899 commonName IVSI-116 A>G (alpha 1) HbVar.2899 ethnic Iranian HbVar.2899 phenoCommon alpha-2 thalassemia HbVar.2900 commonName IVSI-4 A>G (alpha 1) HbVar.2900 ethnic Iranian HbVar.2900 phenoCommon alpha-2 thalassemia HbVar.2901 protEffect HBA1 100(G6) Lys>Stop HbVar.2901 commonName Codon 99 Lys>Stop (alpha 1) HbVar.2901 ethnic Iranian HbVar.2901 phenoCommon alpha-2 thalassemia HbVar.2902 protEffect HBA1 45(+C); modified C-terminal sequence: (45)Pro-Ala-Leu-Arg-Pro-Glu-Pro-Arg-Leu-Cys-
Pro-Gly-(56)COOH HbVar.2902 commonName Codon 44 (+C) (Alpha 1) HbVar.2902 ethnic Iranian HbVar.2902 phenoCommon alpha-2 thalassemia HbVar.2903 protEffect HBA2 8(A5) Lys>Stop HbVar.2903 commonName Codon 7 Lys>Stop (Alpha 2) HbVar.2903 ethnic Iranian HbVar.2903 phenoCommon alpha-2 thalassemia HbVar.2904 protEffect HBB 93(F8) His>Gln AND HBB 94(F9) Cys>Ser HbVar.2904 commonName Hb Vall d'Hebron HbVar.2904 ethnic Caucasian HbVar.2904 ethnic Spanish HbVar.2904 phenoCommon Hemoglobin variant HbVar.2905 protEffect HBA2 92(FG3) Leu>Ile HbVar.2905 commonName Hb Zara HbVar.2905 ethnic Caucasian HbVar.2905 ethnic Croatian HbVar.2905 phenoCommon Hemoglobin variant HbVar.2906 protEffect HBG2 65(E8) Gly>Asp HbVar.2906 commonName Hb F-Turritana HbVar.2906 ethnic Caucasian HbVar.2906 ethnic Italian HbVar.2906 phenoCommon Hemoglobin variant HbVar.2908 protEffect HBA1 63(E11) Val>Ala HbVar.2908 commonName Codon 62 (GTG>GCG, Val>Ala) (alpha1) HbVar.2908 ethnic Chinese HbVar.2908 phenoCommon alpha-2 thalassemia HbVar.2909 commonName 203 bp deletion (HBA2 exon 3) HbVar.2909 ethnic Lebanese HbVar.2909 phenoCommon alpha-2 thalassemia HbVar.2910 protEffect HBB 63(+GCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGG); modified C-terminal sequence: (63)Ala-His-Gly-Lys-Lys-Val-Leu-Gly-Ala-Phe-Ser-Asp-Gly-Leu-Ala-His-Leu-Asp-Asn-Leu-Lys-Gly-Leu-Met-Ala-Arg-Lys-Cys-Ser-Val-Pro-
Leu-Val-Met-Ala-Trp-Leu-Thr-Trp-Thr-Thr-
Ser-Arg-Ala-Pro-Leu-Pro-His-(110)COOH HbVar.2910 commonName HBB:c.187_251dup HbVar.2910 phenoCommon beta0 thalassemia HbVar.2911 protEffect HBB 102(G3) Glu>Val HbVar.2911 commonName Hb Belfort HbVar.2911 ethnic Caucasian HbVar.2911 phenoCommon Hemoglobin variant HbVar.2914 protEffect HBD 51(D1) Ser>Thr HbVar.2914 commonName Hb Konz HbVar.2914 ethnic German HbVar.2914 phenoCommon Hemoglobin variant HbVar.2915 protEffect HBG2 42(C7) Phe>Leu HbVar.2915 commonName Hb F-Avellino HbVar.2915 ethnic Italian HbVar.2915 phenoCommon Hemoglobin variant HbVar.2916 protEffect HBG2 38(C3) Trp>Gly HbVar.2916 commonName Hb F-Cobb II HbVar.2916 ethnic French Caucasian HbVar.2916 phenoCommon Hemoglobin variant HbVar.2918 protEffect HBA1 or HBA2 55(E3) Gln>Pro HbVar.2918 commonName Hb Dhaka HbVar.2918 phenoCommon Hemoglobin variant HbVar.2919 commonName IVS-II-897 A>G ; delta0 HbVar.2919 phenoCommon delta0 thalassemia HbVar.2920 protEffect HBA2 59(E7) His>Gln HbVar.2920 commonName Hb Flurlingen HbVar.2920 ethnic African HbVar.2920 phenoCommon Hemoglobin variant HbVar.2921 commonName Qinzhou type deletion; Alpha-thal 2 HbVar.2921 ethnic Chinese HbVar.2921 phenoCommon alpha-2 thalassemia HbVar.2922 protEffect HBD 91(F6) Glu>Lys HbVar.2922 commonName Hb A2-Canebiere HbVar.2922 ethnic Caucasian HbVar.2922 phenoCommon Hemoglobin variant HbVar.2923 protEffect HBD 80(EF3) Asp>Gly HbVar.2923 commonName Hb A2-Turkish HbVar.2923 ethnic Turkish HbVar.2923 phenoCommon Hemoglobin variant HbVar.2924 protEffect HBB 74(E17) Asp>Phe HbVar.2924 commonName Hb Meylan HbVar.2924 ethnic French Caucasian HbVar.2924 phenoCommon Hemoglobin variant HbVar.2925 commonName 1992 bp deletion (HS3 region - HBB Locus Control Region) HbVar.2925 ethnic Spanish HbVar.2925 phenoCommon Thalassemia HbVar.2926 protEffect HBA2 130 (-C); modified C-terminal sequence HbVar.2926 commonName Hb Hamilton Hill HbVar.2926 phenoCommon Hemoglobin variant HbVar.2927 commonName HBA2:c.-24A>G HbVar.2927 ethnic Caucasian HbVar.2927 ethnic Moroccan HbVar.2927 ethnic Tunisian HbVar.2927 phenoCommon Thalassemia HbVar.2928 protEffect HBB 8(+AGAA); modified C-terminal sequence: (8)Glu-Glu-Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-
Gln-Gly-Glu-Arg-Gly-(23)COOH HbVar.2928 commonName Codons 8/9 (+AGAA) HbVar.2928 ethnic French Caucasian HbVar.2928 phenoCommon beta0 thalassemia HbVar.2930 commonName IVSII-74 T>G HbVar.2930 phenoCommon Thalassemia HbVar.2930 phenoCommon Normal HbVar.2931 protEffect HBG2 68(E11) Val>Met HbVar.2931 commonName Hb F-Heuried HbVar.2931 alias Hb Toms River HbVar.2931 phenoCommon Hemoglobin variant HbVar.2932 protEffect HBB 113(G14) Cys>Gly HbVar.2932 commonName Hb Saint-Marcellin HbVar.2932 ethnic Caucasian HbVar.2932 phenoCommon Hemoglobin variant HbVar.2933 protEffect HBA2 14(A11) - 15(A12) Ala-Trp->0 HbVar.2933 commonName Hb Souli HbVar.2933 ethnic Greek HbVar.2933 phenoCommon alpha-2 thalassemia HbVar.2934 protEffect HBA2 15(A12) Trp>Stop HbVar.2934 commonName Alpha-2 codon 14 G>A (Trp>Stop) HbVar.2934 ethnic Southeast Asian HbVar.2934 phenoCommon alpha-2 thalassemia HbVar.2936 protEffect HBB 30(B11) Gly>Arg HbVar.2936 commonName Hb Dompierre HbVar.2936 ethnic French HbVar.2936 phenoCommon Hemoglobin variant HbVar.2937 protEffect Lys-Val-Leu- inserted between codons 69(E12) and 70(E13) of HBB HbVar.2937 commonName Hb Bronx HbVar.2937 phenoCommon Hemoglobin variant HbVar.2938 protEffect HBA2 143, Stop>Leu; modified C-terminal sequence: (143)Leu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.2938 commonName Hb Kinshasa HbVar.2938 ethnic Congolese HbVar.2938 phenoCommon Hemoglobin variant HbVar.2939 protEffect HBA2 115(+CC); modified C-terminal sequence: (115)Pro-Pro-Pro-Ser-Ser-Pro-Leu-Arg-Cys-Thr-
Pro-Pro-Trp-Thr-Ser-Ser-Trp-Leu-Leu-(133)COOH HbVar.2939 commonName alpha2 Codon 115 (+CC) HbVar.2939 ethnic Greek HbVar.2939 phenoCommon alpha-2 thalassemia HbVar.2940 protEffect HBA1 65(E13) Asp>Asn HbVar.2940 commonName Hb Wadenswil HbVar.2940 ethnic Egyptian HbVar.2940 phenoCommon Hemoglobin variant HbVar.2942 protEffect HBA1 51(CE8) His->0 AND Arg-Ser-His- inserted between 50(CE7) and 52(CE9) of HBA1 HbVar.2942 commonName Hb Bakersfield HbVar.2942 phenoCommon Hemoglobin variant HbVar.2943 protEffect HBA2 128(H10) Lys>Arg HbVar.2943 commonName Hb Longview HbVar.2943 ethnic African-American HbVar.2943 phenoCommon Hemoglobin variant HbVar.2944 protEffect HBB 46(CD4) Phe>Val HbVar.2944 commonName Hb Duc Pho HbVar.2944 ethnic Malasian HbVar.2944 phenoCommon Hemoglobin variant HbVar.2946 commonName IVSI-129 (A>C) HbVar.2946 ethnic Indian HbVar.2946 phenoCommon beta (0 or + unclear) thalassemia HbVar.2947 protEffect HBA1 104(G10) His>Asp HbVar.2947 commonName Hb Illinois HbVar.2947 ethnic Caucasian HbVar.2947 phenoCommon Hemoglobin variant HbVar.2948 protEffect HBB 78(EF1) His>Pro HbVar.2948 commonName Hb Brooklyn HbVar.2948 phenoCommon Hemoglobin variant HbVar.2949 protEffect HBB 84(EF7) Gly>Ser HbVar.2949 commonName Hb Basking Ridge HbVar.2949 phenoCommon Hemoglobin variant HbVar.2951 protEffect HBA2 49(CE6) - 55(E3) Leu-Ser-His-Gly-Ser-Ala-Gln->0 AND inserted Gln HbVar.2951 commonName Hb Fenton HbVar.2951 phenoCommon Hemoglobin variant HbVar.2952 commonName Hb SKMC HbVar.2952 ethnic United Arab Emirates HbVar.2952 phenoCommon Hemoglobin variant HbVar.2953 protEffect HBA2 138(H20) - 139(H21) Thr-Ser->0 AND inserted Thr AND Ser- inserted between codons 138(H20) and 139(H21) of HBA2 HbVar.2953 commonName Hb Pohnpei HbVar.2953 phenoCommon Hemoglobin variant HbVar.2954 protEffect HBA2 46(CE3) His>Gln AND HBA2 58(E6) Gly>Arg HbVar.2954 commonName Hb Blythe Boulevard HbVar.2954 ethnic Caucasian HbVar.2954 phenoCommon Hemoglobin variant HbVar.2955 protEffect HBB 3(NA2) His>Asn HbVar.2955 commonName Hb Franklin Park HbVar.2955 ethnic African-American HbVar.2955 phenoCommon Hemoglobin variant HbVar.2956 protEffect HBA1 63 (-G); modified C-terminal sequence HbVar.2956 commonName Hb Champaign HbVar.2956 ethnic African-American HbVar.2956 ethnic American Indian HbVar.2956 phenoCommon Hemoglobin variant HbVar.2957 protEffect HBB 13(A9) Thr>Ile HbVar.2957 commonName Hb William-Harvey HbVar.2957 ethnic English HbVar.2957 phenoCommon Hemoglobin variant HbVar.2958 protEffect HBB 41(C6) Arg>Thr HbVar.2958 commonName Hb Alcorn County HbVar.2958 ethnic American Indian HbVar.2958 ethnic Irish HbVar.2958 phenoCommon Hemoglobin variant HbVar.2959 protEffect HBB 96(FG2) Lys>Gln HbVar.2959 commonName Hb J-Valencia HbVar.2959 ethnic German HbVar.2959 ethnic Guinean HbVar.2959 ethnic Spanish HbVar.2959 phenoCommon Hemoglobin variant HbVar.2961 commonName African I duplication HbVar.2961 ethnic African HbVar.2961 ethnic Black HbVar.2961 phenoCommon Thalassemia HbVar.2962 commonName beta -176(C>T) HbVar.2962 ethnic Indian HbVar.2962 phenoCommon Thalassemia HbVar.2963 protEffect HBA2 119(H1) Thr>Ile HbVar.2963 commonName Hb Cervantes HbVar.2963 ethnic Spanish HbVar.2963 phenoCommon alpha-2 thalassemia HbVar.2964 protEffect HBA2 32(B12) Arg>Gly HbVar.2964 commonName Hb Maranon HbVar.2964 ethnic Indian HbVar.2964 phenoCommon alpha-2 thalassemia HbVar.2965 protEffect HBA2 92(FG3) Leu>Arg HbVar.2965 commonName Hb La Mancha HbVar.2965 ethnic Spanish HbVar.2965 phenoCommon Hemoglobin variant HbVar.2966 protEffect HBA2 47(CE4) Phe>Ile HbVar.2966 commonName Hb Brigante HbVar.2966 ethnic British HbVar.2966 phenoCommon Hemoglobin variant HbVar.2968 protEffect HBA2 50(CE7) - 58(E6) Ser-His-Gly-Ser-Ala-Gln-Val-Lys-Gly->0 AND inserted Ser HbVar.2968 commonName Hb Goya HbVar.2968 phenoCommon Hemoglobin variant HbVar.2969 protEffect HBA2 92(FG3) Leu>His HbVar.2969 commonName Hb Kalavasos HbVar.2969 ethnic Cypriot HbVar.2969 phenoCommon Hemoglobin variant HbVar.2970 commonName IVS-I-117 G>A - Alpha2 HbVar.2970 phenoCommon alpha-2 thalassemia