ClinVar Miner

List of variants in gene COL4A5 reported by Institute of Human Genetics,Cologne University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000495.5(COL4A5):c.1483dup (p.Gln495fs) rs1556411631
NM_000495.5(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_000495.5(COL4A5):c.4371dup (p.Val1458fs) rs1569508360
NM_000495.5(COL4A5):c.4786G>A (p.Gly1596Ser)

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.