ClinVar Miner

List of variants in gene PKP2 reported as pathogenic for Arrhythmogenic right ventricular cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer) rs794729126
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1755del (p.Asn585fs) rs2137777604
NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter) rs397517015
NM_001005242.3(PKP2):c.1904del (p.His635fs) rs2137773640
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259
NM_001005242.3(PKP2):c.861del (p.Arg287fs) rs2137947261
NM_001005242.3(PKP2):c.938del (p.Ser313fs) rs2137946556

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.