ClinVar Miner

List of variants studied for hemophilia A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.*1672G>A rs1050705 0.55703
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000132.4(F8):c.4500G>A (p.Pro1500=) rs33921347 0.01389
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_000132.4(F8):c.389-9C>T rs35621875 0.00356
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys) rs143174629 0.00136
NM_000132.4(F8):c.4467C>G (p.Val1489=) rs35207609 0.00134
NM_000132.4(F8):c.*1379A>G rs36101366 0.00127
NM_000132.4(F8):c.*1001C>T rs183289212 0.00107
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000132.4(F8):c.*1214G>A rs34700571 0.00054
NM_000132.4(F8):c.*426G>A rs782273756 0.00052
NM_000132.4(F8):c.*78C>T rs782435894 0.00047
NM_000132.4(F8):c.*30G>A rs376482768 0.00020
NM_000132.4(F8):c.1064G>A (p.Arg355Gln) rs146581224 0.00019
NM_000132.4(F8):c.*1166A>G rs984572217 0.00018
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_000132.4(F8):c.2383A>G (p.Arg795Gly) rs2228152 0.00016
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp) rs201721215 0.00015
NM_000132.4(F8):c.3885C>G (p.Asn1295Lys) rs201393905 0.00011
NM_000132.4(F8):c.*1731T>C rs782700848 0.00010
NM_000132.4(F8):c.2696G>A (p.Ser899Asn) rs145089334 0.00008
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_000132.4(F8):c.2217G>A (p.Glu739=) rs781850654 0.00005
NM_000132.4(F8):c.2299C>T (p.His767Tyr) rs782115513 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000132.4(F8):c.*460G>A rs782195878 0.00004
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn) rs1279491966 0.00004
NM_000132.4(F8):c.*1175G>C rs950453657 0.00003
NM_000132.4(F8):c.*1416G>T rs186338743 0.00003
NM_000132.4(F8):c.*288C>A rs1044626956 0.00003
NM_000132.4(F8):c.2535C>A (p.Asp845Glu) rs200316756 0.00003
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala) rs139348729 0.00003
NM_000132.4(F8):c.*1362A>T rs1032816312 0.00002
NM_000132.4(F8):c.*915G>A rs1259930797 0.00002
NM_000132.4(F8):c.3981G>A (p.Thr1327=) rs374245599 0.00002
NM_000132.4(F8):c.*975A>G rs892955433 0.00001
NM_000132.4(F8):c.-157A>G rs1057515826 0.00001
NM_000132.4(F8):c.1173C>T (p.Arg391=) rs1411642179 0.00001
NM_000132.4(F8):c.1587A>G (p.Lys529=) rs1369480074 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.4411A>G (p.Met1471Val) rs782058716 0.00001
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu) rs782235155 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6957G>A (p.Pro2319=) rs200902529 0.00001
NM_000132.4(F8):c.978A>G (p.Leu326=) rs782374508 0.00001
NM_000132.4(F8):c.989A>G (p.His330Arg) rs782498015 0.00001
NM_000132.4(F8):c.*1017C>A rs1603430909
NM_000132.4(F8):c.*176G>A rs2072481964
NM_000132.4(F8):c.*862A>G rs1057515824
NM_000132.4(F8):c.*908T>G rs2072478087
NM_000132.4(F8):c.*992A>G rs782499043
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1830A>G (p.Ile610Met) rs931279960
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg) rs782791962
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.793A>G (p.Ile265Val) rs2073445187

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