ClinVar Miner

List of variants reported as uncertain significance for Lafora disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)	rs374826256	0.00041
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)	rs141919651	0.00015
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)	rs374338349

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