ClinVar Miner

List of variants in gene COG8, LOC130059304 studied for disorder of multiple glycosylation

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032382.5(COG8):c.1682C>T (p.Thr561Met) rs143411142 0.00053
NM_032382.5(COG8):c.1724C>T (p.Thr575Ile) rs201914539 0.00034
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) rs548002506 0.00033
NM_032382.5(COG8):c.1692C>T (p.Thr564=) rs199504043 0.00006
NM_032382.5(COG8):c.1785C>T (p.Cys595=) rs761610722 0.00005
NM_032382.5(COG8):c.*26+5G>C rs1489510736 0.00001
NM_032382.5(COG8):c.1666C>T (p.Leu556=) rs1322293570 0.00001
NM_032382.5(COG8):c.1793G>A (p.Gly598Glu) rs774046470 0.00001
NM_032382.5(COG8):c.*26+10G>T rs886052250
NM_032382.5(COG8):c.1680G>A (p.Glu560=) rs1301680843
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs) rs780534334
NM_032382.5(COG8):c.1686T>C (p.Leu562=)
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs) rs766244312
NM_032382.5(COG8):c.1715C>A (p.Pro572His) rs2143319909
NM_032382.5(COG8):c.1755G>C (p.Glu585Asp) rs1443367772
NM_032382.5(COG8):c.1794A>C (p.Gly598=)
NM_032382.5(COG8):c.1799G>A (p.Arg600Gln)
NM_032382.5(COG8):c.1807A>G (p.Thr603Ala) rs2011769207
NM_032382.5(COG8):c.1833dup (p.Pro612fs) rs1597221180

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.