ClinVar Miner

List of variants studied for Alport syndrome 1, X-linked recessive by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.2768-11A>G rs1006269
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs) rs1603326561
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.609+21T>C rs6622333
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu) rs104886078

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.