ClinVar Miner

List of variants in gene combination ATXN2, LOC130008791 reported as uncertain significance for GM3 synthase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del) rs778119853

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.