List of variants in gene NPRL2 reported as likely pathogenic for Epilepsy, familial focal, with variable foci 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)	rs886037963
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
NM_006545.5(NPRL2):c.233G>A (p.Arg78His)
NM_006545.5(NPRL2):c.445_448+3del	rs1575562076
NM_006545.5(NPRL2):c.491dup (p.Asp165fs)	rs1703652698
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter)	rs2109365845
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs)	rs2109364484
NM_006545.5(NPRL2):c.932+1G>A	rs1703621639

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