ClinVar Miner

List of variants in gene LOC105378311, PCDH15 studied for Usher syndrome type 1

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_033056.4(PCDH15):c.131T>C (p.Val44Ala) rs750302536
NM_033056.4(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_033056.4(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_033056.4(PCDH15):c.146A>G (p.Glu49Gly)
NM_033056.4(PCDH15):c.157+1G>C rs1057516770
NM_033056.4(PCDH15):c.157+3A>G rs41274636
NM_033056.4(PCDH15):c.92-515T>G rs1283842168

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.