List of variants in gene NHLRC1 reported as pathogenic for Myoclonic epilepsy of Lafora 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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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_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)	rs28940575	0.00001
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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