ClinVar Miner

List of variants reported as pathogenic by Lyon Laboratory, Cold Spring Harbor Laboratory

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser) rs878853250
NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs) rs879253753

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