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
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.