List of variants in gene combination COL5A1, LOC101448202 reported as likely pathogenic for Ehlers-Danlos syndrome, classic type, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000009.12:g.(?_134834951)_(134835224_?)del
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)	rs1838935159
NM_000093.5(COL5A1):c.4554+1G>C	rs1564482508
NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)
NM_000093.5(COL5A1):c.4955-1G>C
NM_000093.5(COL5A1):c.5067+1G>A	rs1839245948
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT	rs1839542247
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC	rs1839537297
NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del)	rs1060502250
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)	rs1588615451
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)
NM_000093.5(COL5A1):c.5502_5503delinsCG (p.Cys1835Gly)
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser)	rs1060502246

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.