ClinVar Miner

List of variants in gene COL5A1 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
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.655-2A>G rs786205101

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.