ClinVar Miner

List of variants in gene SCN1A reported as pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1157dup (p.Asn386fs) rs2105866757
NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter) rs2105852267
NM_001165963.4(SCN1A):c.2226del (p.Asn743fs) rs2105829160
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624

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