ClinVar Miner

List of variants in gene PKP2 studied for Arrhythmogenic right ventricular dysplasia/cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_004572.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1840del (p.Leu614fs) rs1555142994
NM_004572.3(PKP2):c.2197_2202delinsG (p.His733fs) rs397517021
NM_004572.3(PKP2):c.2310_2311TC[1] (p.Leu771fs) rs1064794350
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328

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.