ClinVar Miner

List of variants studied for Dravet syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_003165.4(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_006920.6(SCN1A):c.2556+3A>T rs794726775
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3671del (p.Leu1224fs) rs869312670
NM_006920.6(SCN1A):c.3969+2451G>C rs869312684
NM_006920.6(SCN1A):c.4514C>T (p.Ser1505Leu) rs139300715

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.