ClinVar Miner

List of variants reported as pathogenic for Alport syndrome by Molecular Diagnostics Laboratory,M Health: University of Minnesota

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_000495.5(COL4A5):c.3177del (p.Gly1060fs) rs1569499015
NM_000495.5(COL4A5):c.3178G>T (p.Gly1060Ter) rs104886217
NM_000495.5(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228

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.