ClinVar Miner

List of variants in gene SCN8A reported as likely pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp) rs879255694

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