ClinVar Miner

List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 1 by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn) rs202086896 0.00020
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp) rs1566895247
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu) rs1566889147

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.