ClinVar Miner

List of variants studied for Fabry disease by CeMIA

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000169.3(GLA):c.280T>A (p.Cys94Ser) rs2147480697
NM_000169.3(GLA):c.453C>G (p.Tyr151Ter) rs869312305
NM_000169.3(GLA):c.511G>A (p.Gly171Ser) rs869312317
NM_000169.3(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.3(GLA):c.835C>T (p.Gln279Ter) rs28935485
NM_000169.3(GLA):c.924A>C (p.Lys308Asn) rs2147472050

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