ClinVar Miner

List of variants in gene COL3A1 reported as likely pathogenic for Thoracic aortic aneurysm and aortic dissection

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.1178G>A (p.Gly393Asp) rs1553507867
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.3093+1G>T rs869312034
NM_000090.3(COL3A1):c.798_799delAG

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.