ClinVar Miner

List of variants reported as risk factor for aortic aneurysm, familial thoracic 1 by Center of Vascular Surgery, The Second Affiliated Hospital of Nanchang University

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg) rs1553508473
NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter) rs387906853

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.