ClinVar Miner

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

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Total variants: 48
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HGVS dbSNP
NM_000169.2(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.1175G>C (p.Arg392Thr) rs782756052
NM_000169.2(GLA):c.1184G>C (p.Gly395Ala) rs375661583
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.1256A>T (p.Asn419Ile) rs1060500749
NM_000169.2(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.2(GLA):c.185C>T (p.Ser62Phe)
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.247G>A (p.Asp83Asn) rs782722577
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.361G>A (p.Ala121Thr) rs782197638
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.457G>A (p.Asp153Asn) rs370299397
NM_000169.2(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.525C>G (p.Asp175Glu)
NM_000169.2(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.2(GLA):c.590G>A (p.Ser197Asn) rs201679091
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.640-4A>C rs1060500748
NM_000169.2(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.727T>A (p.Leu243Met) rs782453201
NM_000169.2(GLA):c.7C>G (p.Leu3Val) rs869312133
NM_000169.2(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.2(GLA):c.831G>C (p.Trp277Cys) rs782196174
NM_000169.2(GLA):c.85G>A (p.Ala29Thr)
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.2(GLA):c.914C>T (p.Pro305Leu) rs1465021475
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.943G>A (p.Asp315Asn) rs869312156
NM_000169.2(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.2(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.2(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) rs730880437

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