ClinVar Miner

List of variants studied for Lafora disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609 0.00032
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854 0.00029

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