ClinVar Miner

List of variants in gene PCDH15 studied for Deafness, autosomal recessive 23

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NC_000010.10:g.(55839185_55849743)_(55892768_55912859)del
NM_001142769.3(PCDH15):c.4726C>T (p.Gln1576Ter) rs1056396947
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_033056.4(PCDH15):c.1583T>A (p.Val528Asp) rs267606932
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.4(PCDH15):c.2869-1G>T rs1554883705
NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_033056.4(PCDH15):c.785G>A (p.Gly262Asp) rs137853002
NM_033056.4(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001

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.