ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003165.6(STXBP1):c.1217G>A rs886041246
NM_006920.6(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_006920.6(SCN1A):c.2759G>A (p.Arg920His) rs794726718
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.677C>T (p.Thr226Met) rs121917984

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