ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246

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.