ClinVar Miner

List of variants reported as pathogenic for aortic disease by OMIM

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
ELN, 1-BP DEL, 1821C
ELN, 1-BP INS, FS615TER
ELN, 100-KB DEL
ELN, 30-KB DEL
ELN, ARG610GLN AND 24-BP DUP, NT1034
ELN, IVS15AS, A-G, -2
NM_000501.2(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.2(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.2(ELN):c.800-3C>G rs397516433
NM_000501.3(ELN):c.1040del (p.Pro347Glnfs)
NM_000501.3(ELN):c.1858+5G>C
NM_000501.3(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.3(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_005585.4(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.4(SMAD6):c.1451G>T (p.Cys484Phe) rs387907283
NM_005585.4(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.1168_1173dup (p.Ile391_Leu392insGlyIle)
NM_005585.5(SMAD6):c.794del (p.His265Profs)
NM_017617.4(NOTCH1):c.4512delC (p.Cys1505Valfs) rs41309766
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NOTCH1, PRO1797HIS

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.