ClinVar Miner

List of variants in gene COG8 reported as benign for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032382.5(COG8):c.42A>G (p.Thr14=) rs11542583 0.30947
NM_032382.5(COG8):c.1591C>T (p.Pro531Ser) rs76253513 0.01202
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_032382.5(COG8):c.578T>C (p.Val193Ala) rs138647246 0.00304
NM_032382.5(COG8):c.903C>G (p.Pro301=) rs140736262 0.00271
NM_032382.5(COG8):c.603G>A (p.Val201=) rs141435327 0.00076
NM_032382.5(COG8):c.597C>T (p.Asn199=) rs113642086 0.00044
NM_032382.5(COG8):c.1467C>T (p.Ser489=) rs138741747 0.00043
NM_032382.5(COG8):c.1620A>C (p.Leu540=) rs189199610 0.00030
NM_032382.5(COG8):c.704T>C (p.Met235Thr) rs201646246 0.00005

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.