ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by OMIM

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_000806.5(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_000806.5(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_003165.4(STXBP1):c.169+1G>A rs587776641
NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) rs121918320
NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_006920.6(SCN1A):c.2551C>G (p.Arg851Gly) rs397514459
NM_006920.6(SCN1A):c.2923C>T (p.Leu975Phe) rs121918625
NM_006920.6(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.6(SCN1A):c.4973C>A (p.Ala1658Glu) rs397514458
NM_006920.6(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
SCN1A, 1-BP DEL, 2528G
SCN1A, 1-BP DEL, 3608A
SCN1A, 2-BP DEL, 657AG

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.