ClinVar Miner

List of variants reported as pathogenic for Lafora disease by OMIM

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Total variants: 7
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NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554

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