ClinVar Miner

List of variants reported as pathogenic for Fabry disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 3
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HGVS dbSNP
NM_000169.2(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.2(GLA):c.902G>A (p.Arg301Gln) rs104894828

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