ClinVar Miner

List of variants reported as likely benign for Loeys-Dietz syndrome 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_003239.4(TGFB3):c.1149G>A (p.Leu383=) rs1555360032
NM_003239.4(TGFB3):c.1179G>A (p.Gly393=) rs1555360030
NM_003239.4(TGFB3):c.179C>T (p.Thr60Met) rs4252315
NM_003239.4(TGFB3):c.339G>A (p.Gly113=) rs886050798
NM_003239.4(TGFB3):c.357A>G (p.Glu119=) rs748598952
NM_003239.4(TGFB3):c.755-5T>C rs768188445
NM_003239.4(TGFB3):c.840C>T (p.Leu280=) rs746293134
NM_003239.4(TGFB3):c.948T>C (p.Cys316=) rs1364994786
NM_003239.4(TGFB3):c.99C>T (p.Gly33=) rs757663439

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.