ClinVar Miner

List of variants reported as likely benign for COG1 congenital disorder of glycosylation by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829
NM_018714.3(COG1):c.2620-10T>G rs144989249
NM_018714.3(COG1):c.2806-13C>T rs141573449
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655
NM_018714.3(COG1):c.58G>C (p.Ala20Pro) rs142719529

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.