ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.5(COL5A1):c.2701-25T>G rs765079080
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.5(COL5A1):c.3260_3366+1del rs2132830442
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.5(COL5A1):c.3906+3G>T rs786200922
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.5(COL5A1):c.5137-11T>A rs183495554
NM_000093.5(COL5A1):c.5370+3_5370+6del rs786200923
NM_000093.5(COL5A1):c.655-2A>G rs786205101
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.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.