ClinVar Miner

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

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001005242.3(PKP2):c.968_969del (p.Gln323fs) rs745882420 0.00006
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_001005242.3(PKP2):c.*1220A>G rs886049306 0.00002
NM_001005242.3(PKP2):c.1363A>G (p.Lys455Glu) rs1649395606 0.00001
NM_001005242.3(PKP2):c.1840-5G>C rs752016948 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001005242.3(PKP2):c.*1023C>T rs886049309
NM_001005242.3(PKP2):c.*1048G>T rs886049308
NM_001005242.3(PKP2):c.*1159A>T rs886049307
NM_001005242.3(PKP2):c.*320C>A rs886049315
NM_001005242.3(PKP2):c.*579C>A rs886049314
NM_001005242.3(PKP2):c.*753C>G rs886049313
NM_001005242.3(PKP2):c.*910C>A rs886049312
NM_001005242.3(PKP2):c.*953C>A rs886049311
NM_001005242.3(PKP2):c.*962C>A rs886049310
NM_001005242.3(PKP2):c.-15G>T rs886049325
NM_001005242.3(PKP2):c.1379-2027A>G rs778247181
NM_001005242.3(PKP2):c.187A>C (p.Thr63Pro) rs886049324
NM_001005242.3(PKP2):c.337-5T>G rs2137951361
NM_001005242.3(PKP2):c.470A>T (p.Glu157Val) rs886049323
NM_001005242.3(PKP2):c.681C>G (p.Ser227Arg) rs762263587

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