ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_033056.3(PCDH15):c.1997+1G>A rs763797356
NM_033056.3(PCDH15):c.3040_3047dup (p.Met1016Ilefs) rs1554882652
NM_033056.3(PCDH15):c.3984-1G>C rs1057520709
NM_033056.3(PCDH15):c.4035T>A (p.Tyr1345Ter) rs1057520678
NM_033056.3(PCDH15):c.706-3_717delCAGGACCGTGCCCAA rs769348776
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) rs111033260

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.