List of variants studied for Lafora disease by OMIM

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		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)	rs28940576	0.00009
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)	rs587776542	0.00004
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_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)	rs28940575	0.00001
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
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)	rs121917876
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)	rs121917875
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)	rs137852859
NM_198586.3(NHLRC1):c.992del (p.Gly331fs)	rs587776543

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