ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.615-165G>A rs1592380699
NM_001330260.2(SCN8A):c.615-186A>G rs1592380687

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