ClinVar Miner

List of variants in gene PKP2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP
GRCh37/hg19 12p11.21(chr12:33009779-33085304)x3
NM_001005242.2(PKP2):c.1379-2097A>C rs1555144761
NM_001005242.2(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.2(PKP2):c.1788_1790CAA[2] (p.Asn598del) rs750084387
NM_001005242.2(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.2(PKP2):c.2178_2179TC[1] (p.Leu727fs) rs1064794350
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.2(PKP2):c.672_673CT[1] (p.Ser225fs) rs794729123
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986
NM_001005242.3(PKP2):c.1139del (p.Glu380fs) rs1592758957
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1212A>G (p.Leu404=) rs1592750669
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1379-2055G>A rs920363668
NM_001005242.3(PKP2):c.1379-2083G>A rs1592747658
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs) rs1318070848
NM_001005242.3(PKP2):c.149C>G (p.Thr50Arg) rs1402887591
NM_001005242.3(PKP2):c.1518C>T (p.Leu506=) rs1320642436
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1556+2T>C rs1592746270
NM_001005242.3(PKP2):c.1569T>C (p.Ser523=) rs1592738689
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=) rs760093803
NM_001005242.3(PKP2):c.1674+7C>G rs868645170
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012
NM_001005242.3(PKP2):c.1794C>T (p.Asn598=) rs727503370
NM_001005242.3(PKP2):c.192C>T (p.Leu64=)
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=) rs727505293
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe) rs397517018
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val) rs143503798
NM_001005242.3(PKP2):c.2108del (p.Lys703fs) rs1565574709
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln) rs397517020
NM_001005242.3(PKP2):c.2152C>T (p.Leu718=) rs1592729512
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631
NM_001005242.3(PKP2):c.2349A>G (p.Ala783=) rs139258347
NM_001005242.3(PKP2):c.234C>T (p.His78=) rs1591829350
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959
NM_001005242.3(PKP2):c.2357+1G>A rs111517471
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2358-9T>C rs1592724586
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_001005242.3(PKP2):c.2431C>A (p.His811Asn) rs1592724489
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.252T>G (p.Pro84=) rs1591829338
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_001005242.3(PKP2):c.336+8del rs1591829238
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.411A>G (p.Glu137=) rs1591829029
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_001005242.3(PKP2):c.468G>A (p.Pro156=) rs756166702
NM_001005242.3(PKP2):c.487C>A (p.His163Asn) rs1006488583
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.510G>A (p.Gln170=) rs1591828909
NM_001005242.3(PKP2):c.525G>A (p.Gly175=) rs748807540
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905
NM_001005242.3(PKP2):c.582T>C (p.Tyr194=) rs532048791
NM_001005242.3(PKP2):c.687C>T (p.Thr229=) rs1209406571
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_004572.3(PKP2):c.-264G>A rs76078632
NM_004572.3(PKP2):c.1034+136A>G rs147988796
NM_004572.3(PKP2):c.1035-197C>A rs77756570
NM_004572.3(PKP2):c.1035-9T>C rs1057522716
NM_004572.3(PKP2):c.1045A>G (p.Met349Val) rs199957846
NM_004572.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778
NM_004572.3(PKP2):c.1112_1114delinsTT (p.Ser371fs) rs1064796241
NM_004572.3(PKP2):c.1125_1132del (p.Phe376fs) rs794729124
NM_004572.3(PKP2):c.1147C>T (p.Gln383Ter) rs1057520650
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1170+258G>T rs138264987
NM_004572.3(PKP2):c.1170+4_1170+7del rs397516988
NM_004572.3(PKP2):c.1170+5G>A rs794729105
NM_004572.3(PKP2):c.1171-146A>G rs73303641
NM_004572.3(PKP2):c.1171-2A>G rs794729133
NM_004572.3(PKP2):c.1181T>A (p.Leu394His) rs766842360
NM_004572.3(PKP2):c.1202_1209del (p.Leu401fs) rs1555145521
NM_004572.3(PKP2):c.1238G>A (p.Arg413Gln) rs200715477
NM_004572.3(PKP2):c.1246T>C (p.Cys416Arg) rs1555145510
NM_004572.3(PKP2):c.1248T>A (p.Cys416Ter) rs794729104
NM_004572.3(PKP2):c.1252del (p.Ala418fs) rs1555145509
NM_004572.3(PKP2):c.1292T>A (p.Leu431Ter) rs143397927
NM_004572.3(PKP2):c.1367A>G (p.Lys456Arg) rs750897570
NM_004572.3(PKP2):c.1378+152G>T rs117378017
NM_004572.3(PKP2):c.1378+177T>A rs73303639
NM_004572.3(PKP2):c.1378G>C (p.Asp460His) rs794729106
NM_004572.3(PKP2):c.1421C>T (p.Ala474Val) rs373399921
NM_004572.3(PKP2):c.1440_1444del (p.Asn480fs) rs775995156
NM_004572.3(PKP2):c.1449T>C (p.Thr483=) rs781397552
NM_004572.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142
NM_004572.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_004572.3(PKP2):c.1510+78A>G rs112877700
NM_004572.3(PKP2):c.1511-1G>A rs779082302
NM_004572.3(PKP2):c.1531_1540del (p.Ser511fs) rs794729125
NM_004572.3(PKP2):c.1547A>G (p.Lys516Arg) rs749926313
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_004572.3(PKP2):c.1579del (p.Thr526_Leu527insTer) rs794729126
NM_004572.3(PKP2):c.1584G>A (p.Thr528=) rs727504098
NM_004572.3(PKP2):c.1606del (p.Ser536fs) rs1555144478
NM_004572.3(PKP2):c.1617T>C (p.Pro539=) rs879043258
NM_004572.3(PKP2):c.1643del (p.Gly548fs) rs794729137
NM_004572.3(PKP2):c.1664del (p.Phe555fs) rs794729127
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.1674_1681del (p.Thr559fs) rs1064796069
NM_004572.3(PKP2):c.1687A>T (p.Arg563Ter) rs1057520597
NM_004572.3(PKP2):c.1688+140T>C rs73303628
NM_004572.3(PKP2):c.1688+7C>T rs752585335
NM_004572.3(PKP2):c.1689-1G>C rs78897684
NM_004572.3(PKP2):c.1689-2A>G rs1555143143
NM_004572.3(PKP2):c.1707C>T (p.Gly569=) rs780049494
NM_004572.3(PKP2):c.1744C>T (p.Leu582Phe) rs794729134
NM_004572.3(PKP2):c.1760del (p.Val587fs) rs397517009
NM_004572.3(PKP2):c.1767T>G (p.Tyr589Ter) rs794729108
NM_004572.3(PKP2):c.1776A>T (p.Gly592=) rs1555143127
NM_004572.3(PKP2):c.1799del (p.Asp600fs) rs794729128
NM_004572.3(PKP2):c.1803del (p.Asp601fs) rs794729129
NM_004572.3(PKP2):c.1804A>T (p.Lys602Ter) rs794729109
NM_004572.3(PKP2):c.1806+331G>A rs111744961
NM_004572.3(PKP2):c.1806+9A>C rs1212772447
NM_004572.3(PKP2):c.1807-195T>C rs1869652
NM_004572.3(PKP2):c.1832T>G (p.Leu611Arg) rs794729111
NM_004572.3(PKP2):c.1843T>A (p.Ser615Thr) rs768286281
NM_004572.3(PKP2):c.1849C>T (p.Gln617Ter) rs201405287
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1851G>C (p.Gln617His) rs786205476
NM_004572.3(PKP2):c.1855G>T (p.Glu619Ter) rs794729135
NM_004572.3(PKP2):c.1866C>G (p.Leu622=) rs1460314882
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.1876T>A (p.Tyr626Asn) rs794729112
NM_004572.3(PKP2):c.1901del (p.Asn634fs) rs1064793231
NM_004572.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_004572.3(PKP2):c.1928A>G (p.Lys643Arg) rs533659697
NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) rs751288871
NM_004572.3(PKP2):c.1971+235T>C rs59531342
NM_004572.3(PKP2):c.1971+84C>G rs114120976
NM_004572.3(PKP2):c.1972-148A>G rs9919823
NM_004572.3(PKP2):c.1972-298T>A rs144871177
NM_004572.3(PKP2):c.1972-5G>C rs752016948
NM_004572.3(PKP2):c.198del (p.Lys67fs) rs1555149952
NM_004572.3(PKP2):c.19C>T (p.Pro7Ser) rs764645176
NM_004572.3(PKP2):c.2013del (p.Lys672fs) rs764817683
NM_004572.3(PKP2):c.2019C>T (p.Gly673=) rs368325383
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) rs193922673
NM_004572.3(PKP2):c.202G>A (p.Gly68Ser) rs794729114
NM_004572.3(PKP2):c.2060T>G (p.Leu687Arg) rs794729113
NM_004572.3(PKP2):c.2075A>G (p.Lys692Arg) rs776915959
NM_004572.3(PKP2):c.2084G>A (p.Arg695His) rs758813231
NM_004572.3(PKP2):c.2121G>T (p.Gln707His) rs765884775
NM_004572.3(PKP2):c.2145+1G>C rs1057520726
NM_004572.3(PKP2):c.2146-152C>T rs12299276
NM_004572.3(PKP2):c.2146-157G>T rs7975824
NM_004572.3(PKP2):c.2146-185G>C rs12299188
NM_004572.3(PKP2):c.2160G>A (p.Val720=) rs1397771521
NM_004572.3(PKP2):c.2213T>G (p.Leu738Arg) rs794729115
NM_004572.3(PKP2):c.223+286G>A rs78143613
NM_004572.3(PKP2):c.2245_2246delinsAT (p.Ala749Ile) rs1565574704
NM_004572.3(PKP2):c.2274del (p.Asn759fs) rs794729130
NM_004572.3(PKP2):c.2299+183C>G rs73301724
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2299+67C>T rs114561683
NM_004572.3(PKP2):c.2300-10C>T rs1410924735
NM_004572.3(PKP2):c.2300-11del rs746936605
NM_004572.3(PKP2):c.2300-195A>G rs7138758
NM_004572.3(PKP2):c.2300-1G>A rs1060501184
NM_004572.3(PKP2):c.2300-233G>A rs142067942
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2300-4G>T rs376231586
NM_004572.3(PKP2):c.2301del (p.Glu769fs) rs794729117
NM_004572.3(PKP2):c.2303A>C (p.Lys768Thr) rs201487421
NM_004572.3(PKP2):c.2385del (p.Cys796fs) rs794729118
NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) rs794729098
NM_004572.3(PKP2):c.240del (p.Ser81fs) rs794729119
NM_004572.3(PKP2):c.2464A>T (p.Ile822Phe) rs145324631
NM_004572.3(PKP2):c.2489+4A>C rs1064793905
NM_004572.3(PKP2):c.2489+5G>A rs1555141020
NM_004572.3(PKP2):c.2489+72G>A rs61927769
NM_004572.3(PKP2):c.2489+73del rs71447623
NM_004572.3(PKP2):c.2490-104C>G rs6488092
NM_004572.3(PKP2):c.2490-170C>T rs7957460
NM_004572.3(PKP2):c.2490-56C>A rs6488091
NM_004572.3(PKP2):c.2492A>G (p.Tyr831Cys) rs200411128
NM_004572.3(PKP2):c.250C>T (p.Pro84Ser) rs756468173
NM_004572.3(PKP2):c.2522C>T (p.Ser841Phe) rs794729099
NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) rs368633311
NM_004572.3(PKP2):c.2531T>C (p.Leu844Pro) rs794729100
NM_004572.3(PKP2):c.2537C>A (p.Ser846Tyr) rs768808114
NM_004572.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_004572.3(PKP2):c.2540T>C (p.Leu847Pro) rs1064794215
NM_004572.3(PKP2):c.2554del (p.Glu852fs) rs1353074803
NM_004572.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_004572.3(PKP2):c.2578-60C>A rs113493546
NM_004572.3(PKP2):c.2578-69G>A rs7956824
NM_004572.3(PKP2):c.2578-8T>G rs794729101
NM_004572.3(PKP2):c.257dup (p.Tyr86Ter) rs1555148271
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.275T>A (p.Leu92Ter) rs763639737
NM_004572.3(PKP2):c.277G>T (p.Val93Phe) rs1201468352
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.314del (p.Pro105fs) rs794729121
NM_004572.3(PKP2):c.326_336del (p.Asp109fs) rs1064796268
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_004572.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_004572.3(PKP2):c.390C>G (p.Tyr130Ter) rs763303290
NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_004572.3(PKP2):c.457G>A (p.Asp153Asn) rs747856983
NM_004572.3(PKP2):c.466C>G (p.Pro156Ala) rs794729102
NM_004572.3(PKP2):c.533dup (p.His179fs) rs769220833
NM_004572.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_004572.3(PKP2):c.634C>T (p.Arg212Cys) rs766379716
NM_004572.3(PKP2):c.658C>T (p.Gln220Ter) rs886041322
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.68del (p.Gly23fs) rs1555149975
NM_004572.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949
NM_004572.3(PKP2):c.761A>C (p.Asn254Thr) rs769542968
NM_004572.3(PKP2):c.789G>A (p.Thr263=) rs760432217
NM_004572.3(PKP2):c.837C>T (p.Pro279=) rs572938229
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004572.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195
NM_004572.3(PKP2):c.928G>A (p.Val310Met) rs768396351
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343
NM_004572.3(PKP2):c.964G>A (p.Gly322Ser) rs200069860
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.975C>T (p.Ala325=) rs369921166
NM_004572.3(PKP2):c.980G>A (p.Gly327Glu) rs759660796
NM_004572.3(PKP2):c.986_992del (p.Ser329fs) rs1373300155

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