ClinVar Miner

List of variants studied for Tay-Sachs disease AB variant by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
GM2A, 1-BP DEL, 410A
GM2A, 3-BP DEL, 262AAG
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter) rs104893897
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) rs137852797
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) rs104893892

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.