ClinVar Miner

List of variants studied for Dravet syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_003165.4(STXBP1):c.1029+1G>C rs727504173
NM_003165.4(STXBP1):c.1680C>T (p.Asn560=) rs201809337
NM_003165.4(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003165.4(STXBP1):c.714C>A (p.Asp238Glu) rs587784456
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.4(STXBP1):c.754_755del (p.Met252fs) rs587784454
NM_003165.4(STXBP1):c.87+2T>C rs1554775960

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.