ClinVar Miner

List of variants reported as likely pathogenic for Fabry disease

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Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.605G>C (p.Cys202Ser) rs869312344 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
NC_000023.11:g.(?_101401237)_(101403995_?)dup
NM_000169.3(GLA):c.1000-10G>A rs869312203
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
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.1068dup (p.Gln357fs) rs2147471075
NM_000169.3(GLA):c.1072G>T (p.Glu358Ter) rs797044774
NM_000169.3(GLA):c.1076T>C (p.Ile359Thr) rs1928132914
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1079G>A (p.Gly360Asp) rs782509013
NM_000169.3(GLA):c.1084C>A (p.Pro362Thr)
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.109G>A (p.Ala37Thr) rs869312226
NM_000169.3(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.3(GLA):c.1125_1128dup (p.Ala377fs) rs1928125824
NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)
NM_000169.3(GLA):c.1139del (p.Pro380fs) rs2147470791
NM_000169.3(GLA):c.1145G>C (p.Cys382Ser)
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.1165C>G (p.Pro389Ala)
NM_000169.3(GLA):c.1168G>A (p.Val390Met)
NM_000169.3(GLA):c.116C>G (p.Thr39Arg)
NM_000169.3(GLA):c.1176G>T (p.Arg392Ser) rs869312165
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.1229C>T (p.Thr410Ile) rs730880442
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.1285del (p.Leu429fs) rs1555984717
NM_000169.3(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.3(GLA):c.135_142del (p.His46fs) rs2147487148
NM_000169.3(GLA):c.137A>C (p.His46Pro)
NM_000169.3(GLA):c.149T>G (p.Phe50Cys)
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.170A>C (p.Gln57Pro) rs869312260
NM_000169.3(GLA):c.172del (p.Glu58fs) rs869312261
NM_000169.3(GLA):c.176A>T (p.Glu59Val)
NM_000169.3(GLA):c.178C>T (p.Pro60Ser) rs727504689
NM_000169.3(GLA):c.195-2A>G rs2147480960
NM_000169.3(GLA):c.195-89_712del
NM_000169.3(GLA):c.197A>G (p.Glu66Gly) rs869312264
NM_000169.3(GLA):c.202C>T (p.Leu68Phe) rs1928411447
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.244A>T (p.Lys82Ter) rs1057516429
NM_000169.3(GLA):c.254G>C (p.Gly85Ala) rs1569304898
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
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.275A>T (p.Asp92Val)
NM_000169.3(GLA):c.278A>G (p.Asp93Gly)
NM_000169.3(GLA):c.280T>A (p.Cys94Ser) rs2147480697
NM_000169.3(GLA):c.281G>T (p.Cys94Phe) rs113173389
NM_000169.3(GLA):c.285G>T (p.Trp95Cys)
NM_000169.3(GLA):c.298del (p.Arg100fs)
NM_000169.3(GLA):c.304_305del (p.Ser102fs)
NM_000169.3(GLA):c.318_319del (p.Gln107fs)
NM_000169.3(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.3(GLA):c.330_331del (p.Gln111fs)
NM_000169.3(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.3(GLA):c.358C>G (p.Leu120Val)
NM_000169.3(GLA):c.361G>C (p.Ala121Pro) rs782197638
NM_000169.3(GLA):c.370-2A>C rs730880444
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.3G>A (p.Met1Ile) rs2147487910
NM_000169.3(GLA):c.400T>C (p.Tyr134His)
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.413G>T (p.Gly138Val)
NM_000169.3(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.439G>A (p.Gly147Arg) rs1555985830
NM_000169.3(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.454T>G (p.Tyr152Asp) rs1928323615
NM_000169.3(GLA):c.465T>A (p.Asp155Glu) rs782197072
NM_000169.3(GLA):c.476T>C (p.Phe159Ser) rs1555985814
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)
NM_000169.3(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.3(GLA):c.484del (p.Trp162fs) rs1928321045
NM_000169.3(GLA):c.486G>A (p.Trp162Ter) rs869312311
NM_000169.3(GLA):c.500T>C (p.Leu167Pro) rs1928319806
NM_000169.3(GLA):c.511G>A (p.Gly171Ser) rs869312317
NM_000169.3(GLA):c.512G>A (p.Gly171Asp)
NM_000169.3(GLA):c.548G>A (p.Gly183Asp) rs398123212
NM_000169.3(GLA):c.550T>G (p.Tyr184Asp) rs1928287649
NM_000169.3(GLA):c.559A>G (p.Met187Val) rs869312340
NM_000169.3(GLA):c.560T>C (p.Met187Thr) rs869312342
NM_000169.3(GLA):c.56T>C (p.Leu19Pro) rs1928592578
NM_000169.3(GLA):c.59C>A (p.Ala20Asp) rs869312134
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.605G>A (p.Cys202Tyr) rs869312344
NM_000169.3(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs) rs1928279286
NM_000169.3(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.3(GLA):c.639+2T>C rs2147475773
NM_000169.3(GLA):c.639+5G>A rs1928277140
NM_000169.3(GLA):c.640-1del rs1555985200
NM_000169.3(GLA):c.640-814T>C rs1603040008
NM_000169.3(GLA):c.640-859C>T rs869312374
NM_000169.3(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.3(GLA):c.656T>C (p.Ile219Thr) rs2147473404
NM_000169.3(GLA):c.657C>G (p.Ile219Met) rs869312151
NM_000169.3(GLA):c.674A>G (p.His225Arg) rs2147473301
NM_000169.3(GLA):c.688G>A (p.Ala230Thr) rs1928195468
NM_000169.3(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.697GAT[1] (p.Asp234del) rs1928194190
NM_000169.3(GLA):c.700G>T (p.Asp234Tyr) rs1057524557
NM_000169.3(GLA):c.708G>A (p.Trp236Ter) rs869312386
NM_000169.3(GLA):c.717A>G (p.Ile239Met) rs1928192530
NM_000169.3(GLA):c.730G>C (p.Asp244His) rs727503948
NM_000169.3(GLA):c.747C>A (p.Asn249Lys) rs782506652
NM_000169.3(GLA):c.748C>A (p.Gln250Lys) rs398123221
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000169.3(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.3(GLA):c.778G>A (p.Gly260Arg) rs2147472959
NM_000169.3(GLA):c.779G>T (p.Gly260Val)
NM_000169.3(GLA):c.781G>T (p.Gly261Cys)
NM_000169.3(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
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.802-3_804delinsGGCAACTTT rs727504773
NM_000169.3(GLA):c.812G>T (p.Gly271Val) rs869312429
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.3(GLA):c.818T>C (p.Phe273Ser) rs869312430
NM_000169.3(GLA):c.820G>C (p.Gly274Arg) rs2147472458
NM_000169.3(GLA):c.823del (p.Leu275fs) rs869025435
NM_000169.3(GLA):c.824_825del (p.Leu275fs) rs1928173731
NM_000169.3(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.3(GLA):c.833dup (p.Asn278fs) rs1928172876
NM_000169.3(GLA):c.837_839del (p.Gln280del)
NM_000169.3(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.3(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.3(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.3(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.3(GLA):c.871G>A (p.Ala291Thr) rs869312439
NM_000169.3(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.3(GLA):c.878C>T (p.Pro293Leu) rs869312441
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.886A>T (p.Met296Leu)
NM_000169.3(GLA):c.887T>C (p.Met296Thr) rs869312442
NM_000169.3(GLA):c.889T>C (p.Ser297Pro) rs1928167952
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr) rs28935489
NM_000169.3(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.3(GLA):c.902dup (p.His302fs) rs1928166458
NM_000169.3(GLA):c.908T>A (p.Ile303Asn)
NM_000169.3(GLA):c.924A>C (p.Lys308Asn) rs2147472050
NM_000169.3(GLA):c.92C>T (p.Ala31Val) rs869312448
NM_000169.3(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000169.3(GLA):c.961C>G (p.Gln321Glu) rs730880439
NM_000169.3(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.3(GLA):c.974G>A (p.Gly325Asp) rs398123228
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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