ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance by Ambry Genetics

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Total variants: 38
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HGVS dbSNP
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.2(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005242.2(PKP2):c.953A>C (p.His318Pro) rs181098323
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1170+4_1170+7delAGTG rs397516988
NM_004572.3(PKP2):c.1419_1421delCGCinsTGT (p.Ala474Val) rs886038926
NM_004572.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142
NM_004572.3(PKP2):c.1583C>T (p.Thr528Met) rs774942476
NM_004572.3(PKP2):c.1669A>G (p.Asn557Asp) rs200343561
NM_004572.3(PKP2):c.1672G>A (p.Val558Ile) rs376102257
NM_004572.3(PKP2):c.1811C>T (p.Thr604Met) rs373360192
NM_004572.3(PKP2):c.1876T>A (p.Tyr626Asn) rs794729112
NM_004572.3(PKP2):c.1928A>G (p.Lys643Arg) rs533659697
NM_004572.3(PKP2):c.2020G>A (p.Val674Met) rs143038626
NM_004572.3(PKP2):c.2025G>T (p.Glu675Asp) rs879110663
NM_004572.3(PKP2):c.2033G>T (p.Trp678Leu) rs1555142907
NM_004572.3(PKP2):c.2083C>T (p.Arg695Cys) rs199583774
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.2129C>T (p.Thr710Met) rs397517016
NM_004572.3(PKP2):c.224-3C>G rs786204387
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2380T>G (p.Ser794Ala) rs1431341096
NM_004572.3(PKP2):c.2489+5G>A rs1555141020
NM_004572.3(PKP2):c.2489C>A (p.Ala830Asp) rs1057518582
NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) rs368633311
NM_004572.3(PKP2):c.2561A>T (p.His854Leu) rs886039193
NM_004572.3(PKP2):c.2617G>T (p.Ala873Ser) rs1046323987
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_004572.3(PKP2):c.467C>T (p.Pro156Leu) rs766360871
NM_004572.3(PKP2):c.629G>A (p.Arg210Lys) rs1555148132
NM_004572.3(PKP2):c.634C>T (p.Arg212Cys) rs766379716
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_004572.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.989G>A (p.Gly330Glu) rs373041797

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