ClinVar Miner

List of variants in gene TNXB reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398
NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) rs573740606
NM_001365276.2(TNXB):c.4996C>T (p.Arg1666Ter) rs746016355
NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) rs184813324
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) rs551447544
NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys) rs764295837
NM_001365276.2(TNXB):c.861G>A (p.Arg287=) rs1406340228
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759

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.