ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance for Early infantile epileptic encephalopathy 13

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Total variants: 4
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HGVS dbSNP
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.4(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_014191.4(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_014191.4(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257

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