ClinVar Miner

List of variants reported as uncertain significance for Fabry disease by Natera, Inc.

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.635A>G (p.Gln212Arg) rs1372233359 0.00010
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000169.3(GLA):c.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.1256A>T (p.Asn419Ile) rs1060500749 0.00002
NM_000169.3(GLA):c.831G>C (p.Trp277Cys) rs782196174 0.00002
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.313A>G (p.Arg105Gly) rs782092398 0.00001
NM_000169.3(GLA):c.548-10T>A rs782440801 0.00001
NM_000169.3(GLA):c.590G>A (p.Ser197Asn) rs201679091 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.525C>A (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.659G>A (p.Arg220Gln) rs869312378
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.85G>T (p.Ala29Ser) rs142449183
NM_000169.3(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.3(GLA):c.967C>A (p.Pro323Thr) rs147737890

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