ClinVar Miner

List of variants in gene SCN8A reported as likely pathogenic by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro) rs1942828881
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr) rs2138908345
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455

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