ClinVar Miner

List of variants in gene PKP2 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986
NM_004572.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_004572.3(PKP2):c.1170+4_1170+7del rs397516988
NM_004572.3(PKP2):c.1219C>T (p.Gln407Ter) rs1555145520
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
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.1372A>G (p.Ile458Val) rs199571473
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.1419_1421delinsTGT (p.Ala474Val) rs886038926
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.14G>A (p.Gly5Asp) rs774778142
NM_004572.3(PKP2):c.1511-2A>T rs1453983744
NM_004572.3(PKP2):c.1550A>G (p.Asn517Ser) rs144536197
NM_004572.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1583C>T (p.Thr528Met) rs774942476
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
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.1643del (p.Gly548fs) rs794729137
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.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.1811C>T (p.Thr604Met) rs373360192
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004572.3(PKP2):c.1876T>A (p.Tyr626Asn) rs794729112
NM_004572.3(PKP2):c.1903del (p.Arg635fs) rs1555142984
NM_004572.3(PKP2):c.1928A>G (p.Lys643Arg) rs533659697
NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) rs397517013
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
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.2062T>C (p.Ser688Pro) rs144601090
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.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2129C>T (p.Thr710Met) rs397517016
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2150C>T (p.Pro717Leu) rs144018320
NM_004572.3(PKP2):c.2197_2202delinsG (p.His733fs) rs397517021
NM_004572.3(PKP2):c.224-3C>G rs786204387
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.2380T>G (p.Ser794Ala) rs1431341096
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
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.2489+1G>A rs111517471
NM_004572.3(PKP2):c.2489+5G>A rs1555141020
NM_004572.3(PKP2):c.2489C>A (p.Ala830Asp) rs1057518582
NM_004572.3(PKP2):c.2509del (p.Ser837fs) rs727504432
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.337-2A>T rs786204389
NM_004572.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
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.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.600G>A (p.Val200=) rs781305034
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.663C>A (p.Tyr221Ter) rs767987619
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
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.725C>T (p.Thr242Met) rs201580443
NM_004572.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.795_811dup (p.Val271fs) rs1555148090
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004572.3(PKP2):c.953A>C (p.His318Pro) rs181098323
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.989G>A (p.Gly330Glu) rs373041797

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