ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_014191.4(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_014191.4(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_014191.4(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_014191.4(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455

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