ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by Division of Biology and Genetics, University of Brescia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001129.5(AEBP1):c.1925T>C (p.Leu642Pro) rs753531562 0.00001
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) rs1481659687 0.00001
NM_000090.4(COL3A1):c.3779del (p.Arg1260fs)
NM_000093.4(COL5A1):c.3369_3431dup rs1838416489
NM_001365276.2(TNXB):c.5362del (p.Thr1788fs) rs1778646780
NM_080605.4(B3GALT6):c.227del (p.Ile76fs) rs1638539773
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp) rs1638566519

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.