ClinVar Miner

List of variants in gene PKP2 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004572.3(PKP2):c.1308A>G (p.Leu436=) rs1439169005
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.2433C>T (p.Arg811=) rs369166666
NM_004572.3(PKP2):c.600G>A (p.Val200=) rs781305034
NM_004572.3(PKP2):c.717C>T (p.Ala239=) rs143777637
NM_004572.3(PKP2):c.953A>C (p.His318Pro) rs181098323
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343

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