ClinVar Miner

List of variants reported as likely pathogenic for aortic valve disease 1 by Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln) rs1565326476
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) rs755569942
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) rs138111911
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) rs1565322176
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) rs138370967
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) rs150700978
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) rs779392207
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) rs755747435

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.