ClinVar Miner

List of variants studied for Tay-Sachs disease by HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000520.5(HEXA):c.1073+1G>A rs76173977
NM_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs) rs387906309
NM_000520.5(HEXA):c.459+5G>A rs762060470
NM_000520.5(HEXA):c.986+3A>G rs200926928

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.