ClinVar Miner

List of variants reported as likely pathogenic for Familial aortopathy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val) rs1057521930
NM_000090.3(COL3A1):c.1691G>C (p.Gly564Ala) rs193922176
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.447+1G>A rs1559053022
NM_000138.4(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_000138.4(FBN1):c.3915C>A (p.Cys1305Ter) rs1555398152
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter) rs1055960218
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) rs1060502046
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) rs1566999458

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.