ClinVar Miner

List of variants in gene COG5 reported as pathogenic for COG5-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_006348.3(COG5):c.1252del (p.Arg418fs)
NM_006348.3(COG5):c.1508dup (p.Gly505fs) rs773281248
NM_006348.3(COG5):c.1669-15A>G rs1562937199
NM_006348.3(COG5):c.189delG rs1554464495
NM_006348.3(COG5):c.580C>T (p.Gln194Ter) rs1231928102

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.