ClinVar Miner

List of variants reported as uncertain significance for Aortic aneurysm, familial thoracic 7 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) rs761639849
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
NM_053025.4(MYLK):c.3832-8G>C
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) rs750002545
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg) rs374662467

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.