ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_014191.4(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_014191.4(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.4(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487

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