ClinVar Miner

List of variants studied for Fabry disease by Center for Inherited Cardiovascular Diseases, IRCCS Fondazione Policlinico San Matteo

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142

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