ClinVar Miner

List of variants reported as uncertain significance for COG5-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_006348.5(COG5):c.1026+4T>C rs748372051
NM_006348.5(COG5):c.1266G>C (p.Met422Ile)
NM_006348.5(COG5):c.1314-3C>T
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) rs151129529
NM_006348.5(COG5):c.184G>A (p.Ala62Thr) rs375537266
NM_006348.5(COG5):c.1903A>G (p.Lys635Glu) rs140418178
NM_006348.5(COG5):c.2038A>T (p.Ile680Leu)
NM_006348.5(COG5):c.2212G>T (p.Ala738Ser)
NM_006348.5(COG5):c.2347T>C (p.Ser783Pro) rs773449359
NM_006348.5(COG5):c.314C>T (p.Thr105Met) rs755030238
NM_006348.5(COG5):c.551A>G (p.Gln184Arg) rs753818358
NM_006348.5(COG5):c.70A>G (p.Thr24Ala)
NM_006348.5(COG5):c.907A>G (p.Met303Val) rs1001137054
NM_006348.5(COG5):c.948+5A>G
NM_006348.5(COG5):c.963A>G (p.Gln321=) rs375846157

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.