ClinVar Miner

List of variants reported as likely pathogenic for Fabry disease

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 80
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HGVS dbSNP
NC_000023.11:g.(?_101401237)_(101403995_?)dup
NM_000169.2(GLA):c.1000-10G>A rs869312203
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1229C>T (p.Thr410Ile) rs730880442
NM_000169.2(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.2(GLA):c.153G>T (p.Met51Ile)
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) rs1057516429
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.2(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.2(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.2(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.640-1G>A rs398123216
NM_000169.2(GLA):c.640-1del rs1555985200
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.2(GLA):c.657C>G (p.Ile219Met) rs869312151
NM_000169.2(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.2(GLA):c.748C>A (p.Gln250Lys) rs398123221
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.2(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000169.2(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.2(GLA):c.802-2A>T rs797044499
NM_000169.2(GLA):c.818T>C (p.Phe273Ser) rs869312430
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.2(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.2(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.2(GLA):c.961C>G (p.Gln321Glu)
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.1072G>T (p.Glu358Ter)
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1201dup (p.Ser401fs)
NM_000169.3(GLA):c.153G>A (p.Met51Ile)
NM_000169.3(GLA):c.154T>G (p.Cys52Gly)
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.413G>A (p.Gly138Glu)
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.476T>C (p.Phe159Ser) rs1555985814
NM_000169.3(GLA):c.484del (p.Trp162fs)
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs)
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)
NM_000169.3(GLA):c.717A>G (p.Ile239Met)
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.801+1G>C
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000169.3(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.3(GLA):c.889T>C (p.Ser297Pro)
NM_000169.3(GLA):c.902dup (p.His302fs)
NM_000169.3(GLA):c.988del (p.Gln330fs)
NM_001199973.2(RPL36A-HNRNPH2):c.300+2357del rs1555984717
NM_001199973.2(RPL36A-HNRNPH2):c.300+2555G>A rs797044776
NM_001199973.2(RPL36A-HNRNPH2):c.300+2569_300+2583del rs1569302697
NM_001199973.2(RPL36A-HNRNPH2):c.300+2585_300+2586del rs886044829
NM_001199973.2(RPL36A-HNRNPH2):c.300+3064dup rs1555985002
NM_001199973.2(RPL36A-HNRNPH2):c.300+3090del rs869025435
NM_001199973.2(RPL36A-HNRNPH2):c.301-4097_301-4084dup rs1555987175
NM_001199973.2(RPL36A-HNRNPH2):c.301-4203del

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