ClinVar Miner

List of variants studied for Dravet syndrome by Wu Jinyu Laboratory, Institute of Genomic Medicine,Wenzhou Medical University

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NM_003165.4(STXBP1):c.1111-2A>G rs1554778417
NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) rs1564357089

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.