ClinVar Miner

List of variants reported as pathogenic for anemia, nonspherocytic hemolytic by Dunham Lab, University of Washington

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) rs137852324 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) rs137852343 0.00001
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
G6PD Amsterdam rs2070404412
G6PD NARA rs587776730
G6PD VARNSDORF rs2070350009
G6PD ZURICH rs2070350038
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) rs137852333
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) rs137852322
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) rs137852321
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) rs137852336
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) rs137852315
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_001042351.1(G6PD):c.1054_1055insG
NM_001042351.3(G6PD):c.-9+2T>G
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys) rs137852329
NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser)
NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val)
NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr)
NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly)
NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp)
NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly)
NM_001360016.2(G6PD):c.1183C>T (p.Gln395Ter)
NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala) rs2148328852
NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg) rs1557229683
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) rs1557229683
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) rs137852325
NM_001360016.2(G6PD):c.1205C>A (p.Thr402Asn)
NM_001360016.2(G6PD):c.1215G>A (p.Met405Ile)
NM_001360016.2(G6PD):c.1220A>C (p.Lys407Thr)
NM_001360016.2(G6PD):c.1225C>T (p.Pro409Ser)
NM_001360016.2(G6PD):c.1226C>A (p.Pro409Gln)
NM_001360016.2(G6PD):c.1226C>G (p.Pro409Arg)
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys)
NM_001360016.2(G6PD):c.1283dup (p.Tyr428Ter)
NM_001360016.2(G6PD):c.1284C>A (p.Tyr428Ter)
NM_001360016.2(G6PD):c.1285A>G (p.Lys429Glu)
NM_001360016.2(G6PD):c.1288-2A>T
NM_001360016.2(G6PD):c.1292T>G (p.Val431Gly)
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro) rs137852324
NM_001360016.2(G6PD):c.1376del (p.Arg459fs) rs2070346743
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) rs1603411214
NM_001360016.2(G6PD):c.1463G>T (p.Gly488Val)
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser) rs1603411177
NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu)
NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA (p.Asp493fs)
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
NM_001360016.2(G6PD):c.283_285del (p.Lys95del)
NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter)
NM_001360016.2(G6PD):c.354C>G (p.Tyr118Ter)
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
NM_001360016.2(G6PD):c.536G>A (p.Ser179Asn)
NM_001360016.2(G6PD):c.551C>G (p.Ser184Cys)
NM_001360016.2(G6PD):c.562TCC[1] (p.Ser189del)
NM_001360016.2(G6PD):c.585G>C (p.Gln195His)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp)
NM_001360016.2(G6PD):c.713A>G (p.Lys238Arg)
NM_001360016.2(G6PD):c.770G>A (p.Arg257Gln)
NM_001360016.2(G6PD):c.827C>T (p.Pro276Leu)
NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly)
NM_001360016.2(G6PD):c.882del (p.Lys293_Cys294insTer)
NM_001360016.2(G6PD):c.916G>A (p.Gly306Ser)
NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del)
NM_001360016.2(G6PD):c.[376A>G;968T>C]

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