ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_001278074.1(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) rs1554063781
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) rs1554701911
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919

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.