ClinVar Miner

List of variants studied for obsolete Dravet syndrome by Baylor Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
GRCh37/hg19 9q33.3(chr9:129414011-129460757)
GRCh37/hg19 9q34.11(chr9:130335766-130517907)
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_003165.4(STXBP1):c.170-2A>G rs1554776674
NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_003165.4(STXBP1):c.578+1G>A rs796053357
NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) rs1564346538
NM_006920.6(SCN1A):c.4100A>T (p.Asn1367Ile) rs1131691775

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.