ClinVar Miner

List of variants reported as likely benign for Loeys-Dietz syndrome by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445

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.