ClinVar Miner

List of variants in gene SCN2A reported as likely pathogenic for Epileptic encephalopathy

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Total variants: 5
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HGVS dbSNP
NM_021007.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_021007.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_021007.2(SCN2A):c.4031G>A (p.Cys1344Tyr) rs1057519527
NM_021007.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_021007.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528

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