ClinVar Miner

List of variants reported as likely pathogenic for Loeys-Dietz syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_003238.6(TGFB2):c.370dup (p.Arg124fs) rs869025533
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) rs730880221
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) rs869025537
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) rs730880224
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_005902.4(SMAD3):c.206+1G>C rs770098673
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.532+1G>C rs2140295070
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) rs730880215

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.