ClinVar Miner

List of variants reported as likely pathogenic for COG5-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) rs1135401817
NM_181581.3(DUS4L):c.-349_-348insGGCCC rs1584977236

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.