ClinVar Miner

List of variants studied for GM1 gangliosidosis type 2 by Mendelics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382

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.