ClinVar Miner

List of variants in gene GLDC reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
GLDC, 2607C-A
GLDC, 30-KB DEL
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) rs121964974
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.2267_2269delTCT (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) rs121964977
NM_000170.2(GLDC):c.2T>C (p.Met1Thr) rs121964978

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.