ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.263+7A>G rs1155705
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.344-74del rs193922675
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636

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.