ClinVar Miner

List of variants in gene PKP2 reported as likely benign by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 9
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HGVS dbSNP
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.240C>G (p.Thr80=) rs1565599860
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343

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