ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001005242.3(PKP2):c.*48dup rs369140281 0.00677
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001005242.3(PKP2):c.*1199del rs11476598
NM_001005242.3(PKP2):c.*1311del rs3833501
NM_001005242.3(PKP2):c.*578_*583dup rs137947383
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695

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