ClinVar Miner

List of variants in gene COL4A5, COL4A6 studied for Alport syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NG_011977.1:g.1_264622del
NM_000495.3(COL4A5):c.1-?_5058+?del
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del
NM_000495.4(COL4A5):c.(?_-202)-1982_(81_?)del
NM_033380.2(COL4A5):c.(?_-129378)_(81_?)del (p.?)

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.