ClinVar Miner

List of variants in gene EPM2A reported as uncertain significance for Lafora disease

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Total variants: 2
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HGVS dbSNP
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627

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