ClinVar Miner

List of variants in gene COL6A3 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
COL6A3, IVS15DS, GT-TC, +1
COL6A3, IVS16DS, G-A, +1
NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.3(COL6A3):c.5177T>G (p.Leu1726Arg) rs121434555
NM_004369.3(COL6A3):c.7502G>A (p.Arg2501His) rs541928674
NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870
NM_004369.3(COL6A3):c.8966-1G>C rs767517186
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977

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.