ClinVar Miner

List of variants reported as benign for COG6-congenital disorder of glycosylation by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_020751.3(COG6):c.1074+18T>C rs9548882 0.20795
NM_020751.3(COG6):c.1340T>C (p.Met447Thr) rs41286961 0.05379
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile) rs114044193 0.00750
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_020751.3(COG6):c.1693-7_1693-6del rs1491507046 0.00273
NM_020751.3(COG6):c.729C>T (p.Asp243=) rs117688574 0.00218
NM_020751.3(COG6):c.1308T>G (p.Leu436=) rs61754105 0.00118
NM_020751.3(COG6):c.1827-4A>G rs375878630 0.00021
NM_020751.3(COG6):c.1693-8_1693-6del rs375280565 0.00012
NM_020751.3(COG6):c.939T>C (p.Ala313=) rs550755756 0.00004
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020751.3(COG6):c.855C>T (p.Leu285=) rs544831978

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.