ClinVar Miner

Variants in gene PKP2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2247del (p.Ser750fs) rs2137708500
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005242.3(PKP2):c.962_965del (p.Val321fs) rs2137946218
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459

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