List of variants reported as pathogenic for Myoclonic epilepsy of Lafora 1

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)	rs137852915	0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)	rs137852916	0.00001
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter)	rs796052424
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)	rs587776553
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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