ClinVar Miner

List of variants reported as pathogenic for COG5-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006348.5(COG5):c.613C>T (p.Arg205Ter) rs370851836 0.00004
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter) rs762675426 0.00002
NM_006348.5(COG5):c.847C>T (p.Arg283Ter) rs548774836 0.00002
NM_006348.5(COG5):c.1159del (p.Arg387fs) rs1422285851 0.00001
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter) rs148069173 0.00001
NC_000007.13:g.(?_106843961)_(107053097_?)del
NC_000007.13:g.(?_106897157)_(106938811_?)del
NC_000007.13:g.(?_106897157)_(107002885_?)del
NC_000007.13:g.(?_106921725)_(106924197_?)del
NC_000007.13:g.(?_106964865)_(106964986_?)del
NC_000007.13:g.(?_107002458)_(107002885_?)del
NC_000007.13:g.(?_107002458)_(107053097_?)del
NC_000007.13:g.(?_107002458)_(107204434_?)del
NC_000007.13:g.(?_107052927)_(107053097_?)del
NC_000007.13:g.(?_107167662)_(107167822_?)del
NC_000007.13:g.(?_107188536)_(107204434_?)del
NC_000007.13:g.(?_107204228)_(107204434_?)del
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
NM_006348.5(COG5):c.1179G>A (p.Trp393Ter) rs2116916717
NM_006348.5(COG5):c.1179del (p.Leu392_Trp393insTer)
NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)
NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter)
NM_006348.5(COG5):c.1410dup (p.Pro471fs)
NM_006348.5(COG5):c.1415dup (p.Gly474fs) rs773281248
NM_006348.5(COG5):c.1570C>T (p.Gln524Ter)
NM_006348.5(COG5):c.1627C>T (p.Gln543Ter) rs778187974
NM_006348.5(COG5):c.1791_1794del (p.Thr598fs) rs771651520
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)
NM_006348.5(COG5):c.2167del (p.Arg723fs) rs2116402799
NM_006348.5(COG5):c.220G>T (p.Glu74Ter) rs1803451815
NM_006348.5(COG5):c.2234dup (p.Ser746fs) rs2116202376
NM_006348.5(COG5):c.2263A>T (p.Arg755Ter) rs2116201860
NM_006348.5(COG5):c.2T>G (p.Met1Arg) rs375702393
NM_006348.5(COG5):c.46C>T (p.Arg16Ter)
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006348.5(COG5):c.652C>T (p.Gln218Ter)
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)
NM_006348.5(COG5):c.697del (p.Gln233fs)
NM_006348.5(COG5):c.729_730dup (p.Thr244fs) rs1289836014
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)
NM_006348.5(COG5):c.81del (p.Glu27fs) rs777937112
NM_006348.5(COG5):c.832A>T (p.Arg278Ter)
NM_006348.5(COG5):c.936del (p.Val313fs)
NM_006348.5(COG5):c.961C>T (p.Gln321Ter) rs370028534
NM_006348.5(COG5):c.96del (p.Cys33Valfs) rs1554464495
NM_181581.3(DUS4L):c.-339_-338del rs1049832940

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.