ClinVar Miner

List of variants in gene GLB1, LOC129936434, TMPPE studied for GM1 gangliosidosis type 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_000404.4(GLB1):c.75+2dup rs587776525 0.00021
NM_000404.4(GLB1):c.65_75+1del rs1382394474

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.