ClinVar Miner

List of variants reported as uncertain significance for Fabry disease by Albrecht-Kossel-Institute,Medical University Rostock

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.2(GLA):c.361G>A (p.Ala121Thr) rs782197638
NM_000169.2(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.2(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.2(GLA):c.7C>G (p.Leu3Val) rs869312133
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
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.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

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