ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely pathogenic for Fabry disease

Included ClinVar conditions (2):
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Total variants: 47
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HGVS dbSNP
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1055_1056del (p.Ala352fs) rs1555984840
NM_000169.2(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.2(GLA):c.1062_1076del (p.Asn355_Ile359del) rs1569302697
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
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.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.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
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.59_72dup (p.Asp25fs) rs1555987175
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.640-1delG 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)
NM_000169.2(GLA):c.748C>A (p.Gln250Lys)
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.802-3_804delinsGGCAACTTT rs727504773
NM_000169.2(GLA):c.823del (p.Leu275fs) rs869025435
NM_000169.2(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.2(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.2(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832

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