ClinVar Miner

List of variants in gene NPRL2 studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (90):
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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006545.5(NPRL2):c.1004G>A (p.Arg335Gln) rs758322982 0.00004
NM_006545.5(NPRL2):c.694G>A (p.Val232Ile) rs767088341 0.00003
NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys) rs751736902 0.00001
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.158A>G (p.Lys53Arg)
NM_006545.5(NPRL2):c.213C>G (p.Ile71Met) rs752423985
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu) rs1559857717
NM_006545.5(NPRL2):c.260T>C (p.Phe87Ser)
NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro) rs886037965
NM_006545.5(NPRL2):c.416T>G (p.Leu139Arg)
NM_006545.5(NPRL2):c.445_448+3del rs1575562076
NM_006545.5(NPRL2):c.472A>G (p.Lys158Glu) rs1703653579
NM_006545.5(NPRL2):c.491dup (p.Asp165fs) rs1703652698
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter) rs2109365845
NM_006545.5(NPRL2):c.586-3C>A rs775206926
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala) rs202157450
NM_006545.5(NPRL2):c.683T>C (p.Leu228Pro) rs1559856358
NM_006545.5(NPRL2):c.684-12TC[3]
NM_006545.5(NPRL2):c.68_69del (p.Ile23fs) rs886037966
NM_006545.5(NPRL2):c.728A>G (p.Asn243Ser)
NM_006545.5(NPRL2):c.743C>T (p.Thr248Met)
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs) rs2109364484
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter) rs886037964
NM_006545.5(NPRL2):c.907del (p.Gln303fs)
NM_006545.5(NPRL2):c.911A>C (p.Gln304Pro)
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006545.5(NPRL2):c.932G>A (p.Arg311Gln)

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