ClinVar Miner

List of variants in gene PCDH15 reported as likely benign for Usher syndrome, type 1F

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_033056.3(PCDH15):c.158-16930T>C rs207470941
NM_033056.3(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.3(PCDH15):c.3501+13A>G rs727503365
NM_033056.3(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.3(PCDH15):c.4368-76C>T rs375657329
NM_033056.3(PCDH15):c.4368-77G>A rs776152870
NM_033056.3(PCDH15):c.4368-77delG rs1554821197
NM_033056.3(PCDH15):c.4368-79_4368-76delGAGC rs1554821194
NM_033056.3(PCDH15):c.5278_5286delCCTGCTCCT (p.Pro1760_Pro1762del) rs373916538
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463

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.