List of variants in gene combination COL5A1, LOC101448202 reported as benign for Ehlers-Danlos syndrome type 7A

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.*2395G>T	rs4504708	0.76943
NM_000093.5(COL5A1):c.*83C>T	rs13946	0.76018
NM_000093.5(COL5A1):c.*1125A>T	rs1134170	0.66610
NM_000093.5(COL5A1):c.*2501T>C	rs3128575	0.63348
NM_000093.5(COL5A1):c.*267C>T	rs12722	0.43648
NM_000093.5(COL5A1):c.*894T>C	rs11103544	0.20603
NM_000093.5(COL5A1):c.*1086ATCT[1]	rs16399
NM_000093.5(COL5A1):c.*733C>A	rs3196378
NM_000093.5(COL5A1):c.870_873dup	rs10628678
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	rs2228560

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.