ClinVar Miner

List of variants in gene SCN8A reported as likely pathogenic for Early infantile epileptic encephalopathy 13

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Total variants: 10
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HGVS dbSNP
NM_001177984.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.3(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_014191.3(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_014191.3(SCN8A):c.4403A>G (p.Asn1468Ser) rs1057518667
NM_014191.3(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_014191.3(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.3(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_014191.3(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_014191.3(SCN8A):c.647T>G (p.Val216Gly) rs879255696

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