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: 18
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HGVS dbSNP
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.1420G>A (p.Ala474Thr) rs138538072
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1636G>A (p.Ala546Thr) rs368740836
NM_004572.3(PKP2):c.1641T>C (p.Asn547=) rs143782040
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2433C>T (p.Arg811=) rs369166666
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.600G>A (p.Val200=) rs781305034
NM_004572.3(PKP2):c.714G>A (p.Pro238=) rs727503372
NM_004572.3(PKP2):c.717C>T (p.Ala239=) rs143777637
NM_004572.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343

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