ClinVar Miner

List of variants reported as likely benign for aortic disease by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000192.3(TBX5):c.579A>G (p.Gly193=) rs967802452
NM_000501.4(ELN):c.1089G>A (p.Ala363=) rs782204123
NM_000501.4(ELN):c.1431C>T (p.Val477=) rs782141278
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494
NM_000501.4(ELN):c.2086+8del rs782078342
NM_000501.4(ELN):c.2132-6G>A rs781831349
NM_000501.4(ELN):c.42C>T (p.Leu14=) rs1554660052

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.