ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.4049C>T (p.Ala1350Val) rs1592162506
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_001330260.2(SCN8A):c.615-230T>C rs1057518487
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln)
NM_014191.4(SCN8A):c.4393G>A (p.Asp1465Asn)
NM_014191.4(SCN8A):c.800T>C (p.Leu267Ser) rs878853250

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