ClinVar Miner

List of variants reported as pathogenic for Alport syndrome 1, X-linked recessive by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs) rs1603290131
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs)
NM_033380.3(COL4A5):c.311del (p.Pro104fs) rs1603278993
NM_033380.3(COL4A5):c.4316-1G>T rs281874734
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs) rs1569509234

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.