ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance for Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5

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Total variants: 3
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HGVS dbSNP
NM_014191.4(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631
NM_014191.4(SCN8A):c.457A>C (p.Asn153His) rs796053232
NM_014191.4(SCN8A):c.5479A>G (p.Ile1827Val)

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