ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, classic type

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000002.12:g.(?_188974480)_(189580648_?)del
NC_000009.12:g.(?_134642178)_(134701343_?)del
NC_000009.12:g.(?_134642178)_(134768473_?)del
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134690902)_(134727407_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134701171)_(134835204_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
NC_000009.12:g.(?_134782657)_(134842313_?)del
NC_000009.12:g.134824601del rs1588597744
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.857_875del (p.Gly286fs) rs1584319045
NM_000093.4(COL5A1):c.3369_3431dup rs1838416489
NM_000093.5(COL5A1):c.1720-136_1929del
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.5(COL5A1):c.2203dup (p.Gln735fs) rs1057519596
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_000093.5(COL5A1):c.4338+1G>A rs1564481053
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter) rs776640704
NM_000393.5(COL5A2):c.1617+4A>G rs1553515517
NM_000393.5(COL5A2):c.1924-2_1928del rs786205103
NM_000393.5(COL5A2):c.2031+1G>T rs786205104
NM_000393.5(COL5A2):c.2553+2del rs1553514506
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs) rs1685782021
NM_000393.5(COL5A2):c.3148-2A>G rs1553513971
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) rs1553512393

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.