ClinVar Miner

List of variants studied for Dravet syndrome by GeneReviews

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_003165.4(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) rs796053355
NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_003165.4(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_003165.4(STXBP1):c.902+1G>A rs886041978

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.