ClinVar Miner

List of variants in gene PKP2 reported as likely benign for Cardiomyopathy

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Total variants: 42
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HGVS dbSNP
NM_004572.3(PKP2):c.*5A>G rs1398323423
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1101A>G (p.Pro367=) rs776927054
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1326G>A (p.Leu442=) rs377076035
NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_004572.3(PKP2):c.1449T>C (p.Thr483=) rs781397552
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1476G>A (p.Thr492=) rs140301552
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_004572.3(PKP2):c.1995G>A (p.Pro665=) rs146144731
NM_004572.3(PKP2):c.2097A>G (p.Gln699=) rs727505293
NM_004572.3(PKP2):c.212C>T (p.Ser71Phe) rs796597346
NM_004572.3(PKP2):c.2150C>T (p.Pro717Leu) rs144018320
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2349G>A (p.Pro783=) rs753226330
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.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2485G>A (p.Asp829Asn) rs151264959
NM_004572.3(PKP2):c.2487T>C (p.Asp829=) rs142362933
NM_004572.3(PKP2):c.2499C>T (p.Ser833=) rs1330430218
NM_004572.3(PKP2):c.2578-11dup rs397517024
NM_004572.3(PKP2):c.2589G>A (p.Lys863=) rs777477467
NM_004572.3(PKP2):c.2619C>T (p.Ala873=) rs747191995
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
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.45C>T (p.Thr15=) rs759214983
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.741G>C (p.Gly247=) rs762366326
NM_004572.3(PKP2):c.795G>T (p.Gly265=) rs375268778
NM_004572.3(PKP2):c.901C>T (p.Leu301=) rs1565599048
NM_004572.3(PKP2):c.927C>T (p.Ala309=) rs200152448
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343
NM_004572.3(PKP2):c.996G>A (p.Leu332=) rs144574595

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