ClinVar Miner

List of variants reported as likely pathogenic for Fabry disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000169.3(GLA):c.1000-10G>A rs869312203
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg) rs1928137126
NM_000169.3(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del) rs1569302697
NM_000169.3(GLA):c.1072G>T (p.Glu358Ter) rs797044774
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1125_1128dup (p.Ala377fs) rs1928125824
NM_000169.3(GLA):c.1139del (p.Pro380fs) rs2147470791
NM_000169.3(GLA):c.1168G>A (p.Val390Met)
NM_000169.3(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.3(GLA):c.1201dup (p.Ser401fs) rs1928120091
NM_000169.3(GLA):c.1229C>A (p.Thr410Lys) rs730880442
NM_000169.3(GLA):c.1285del (p.Leu429fs) rs1555984717
NM_000169.3(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.3(GLA):c.153G>A (p.Met51Ile) rs869312255
NM_000169.3(GLA):c.153G>T (p.Met51Ile) rs869312255
NM_000169.3(GLA):c.154T>G (p.Cys52Gly) rs1057521047
NM_000169.3(GLA):c.154dup (p.Cys52fs)
NM_000169.3(GLA):c.172del (p.Glu58fs) rs869312261
NM_000169.3(GLA):c.197A>G (p.Glu66Gly) rs869312264
NM_000169.3(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.3(GLA):c.275A>G (p.Asp92Gly) rs1928406948
NM_000169.3(GLA):c.281G>T (p.Cys94Phe) rs113173389
NM_000169.3(GLA):c.370-2A>C rs730880444
NM_000169.3(GLA):c.3G>A (p.Met1Ile) rs2147487910
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp) rs727503951
NM_000169.3(GLA):c.412G>A (p.Gly138Arg) rs1928326524
NM_000169.3(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.3(GLA):c.484del (p.Trp162fs) rs1928321045
NM_000169.3(GLA):c.500T>C (p.Leu167Pro) rs1928319806
NM_000169.3(GLA):c.550T>G (p.Tyr184Asp) rs1928287649
NM_000169.3(GLA):c.56T>C (p.Leu19Pro) rs1928592578
NM_000169.3(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.3(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.3(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs) rs1928279286
NM_000169.3(GLA):c.688G>A (p.Ala230Thr) rs1928195468
NM_000169.3(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.3(GLA):c.800T>G (p.Met267Arg) rs869312408
NM_000169.3(GLA):c.801+1G>C rs868923658
NM_000169.3(GLA):c.802-2A>T rs797044499
NM_000169.3(GLA):c.824_825del (p.Leu275fs) rs1928173731
NM_000169.3(GLA):c.833dup (p.Asn278fs) rs1928172876
NM_000169.3(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.3(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.3(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.3(GLA):c.902dup (p.His302fs) rs1928166458
NM_000169.3(GLA):c.92C>T (p.Ala31Val) rs869312448
NM_000169.3(GLA):c.961C>G (p.Gln321Glu) rs730880439
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.3(GLA):c.983G>A (p.Gly328Glu)
NM_000169.3(GLA):c.988del (p.Gln330fs) rs1928157897

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