ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance for Cardiovascular phenotype

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Gene type:
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Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001005242.3(PKP2):c.928G>A (p.Val310Met) rs768396351 0.00017
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995 0.00012
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn) rs143954425 0.00012
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val) rs139924723 0.00008
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn) rs772334698 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg) rs779173447 0.00006
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met) rs774942476 0.00005
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp) rs767935208 0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195 0.00005
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val) rs201803918 0.00005
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn) rs144401285 0.00004
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln) rs370868564 0.00004
NM_001005242.3(PKP2):c.1379-2020G>A rs1415117420 0.00004
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp) rs200343561 0.00004
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr) rs558637427 0.00004
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly) rs775103879 0.00004
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr) rs779926314 0.00004
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val) rs143503798 0.00004
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln) rs397517020 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys) rs766379716 0.00004
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val) rs775318947 0.00004
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys) rs1208347768 0.00003
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084 0.00003
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn) rs763427502 0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002 0.00003
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met) rs373360192 0.00003
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg) rs533659697 0.00003
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly) rs375295635 0.00003
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp) rs879210282 0.00003
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg) rs794729115 0.00003
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln) rs766802880 0.00003
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg) rs372729739 0.00003
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu) rs750028032 0.00003
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser) rs56869013 0.00002
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys) rs761238380 0.00002
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln) rs753912985 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu) rs866789949 0.00002
NM_001005242.3(PKP2):c.1820G>A (p.Arg607Gln) rs763648594 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg) rs776915959 0.00002
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His) rs758813231 0.00002
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr) rs543233804 0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033 0.00002
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr) rs1193697338 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.587G>A (p.Arg196His) rs146566525 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr) rs148480056 0.00002
NM_001005242.3(PKP2):c.110A>G (p.Lys37Arg) rs781400459 0.00001
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr) rs750897570 0.00001
NM_001005242.3(PKP2):c.1379-5T>C rs189036647 0.00001
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser) rs374163198 0.00001
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala) rs775192286 0.00001
NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile) rs780349259 0.00001
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142 0.00001
NM_001005242.3(PKP2):c.154A>G (p.Lys52Glu) rs920017662 0.00001
NM_001005242.3(PKP2):c.1579G>A (p.Asp527Asn) rs764193250 0.00001
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn) rs776363973 0.00001
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys) rs1060501183 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1784C>A (p.Thr595Asn) rs1354122232 0.00001
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr) rs759920696 0.00001
NM_001005242.3(PKP2):c.1958A>G (p.Tyr653Cys) rs778600610 0.00001
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His) rs765884775 0.00001
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser) rs757205704 0.00001
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val) rs556563706 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 0.00001
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser) rs1488359220 0.00001
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg) rs766775778 0.00001
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val) rs763663760 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys) rs763433296 0.00001
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu) rs766360871 0.00001
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met) rs759687672 0.00001
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn) rs886049322 0.00001
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu) rs748566573 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 0.00001
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949 0.00001
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile) rs748148237 0.00001
NM_001005242.3(PKP2):c.878G>C (p.Ser293Thr) rs1323074715 0.00001
NM_001005242.3(PKP2):c.893C>A (p.Thr298Asn) rs753271708 0.00001
NM_001005242.3(PKP2):c.914G>A (p.Gly305Glu) rs146683466 0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala) rs756604557 0.00001
NM_001005242.3(PKP2):c.-3C>A
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys) rs1957128054
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys) rs147264025
NM_001005242.3(PKP2):c.1123A>G (p.Thr375Ala)
NM_001005242.3(PKP2):c.1162C>G (p.Arg388Gly)
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1170+5G>A rs794729105
NM_001005242.3(PKP2):c.1184G>C (p.Arg395Pro)
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val) rs1039022167
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln) rs1956689490
NM_001005242.3(PKP2):c.130_131delinsCC (p.Ser44Pro)
NM_001005242.3(PKP2):c.1358A>C (p.Glu453Ala)
NM_001005242.3(PKP2):c.1378+5T>C rs767415624
NM_001005242.3(PKP2):c.1379-1994A>G
NM_001005242.3(PKP2):c.1379-1997G>C
NM_001005242.3(PKP2):c.1379-2042G>A
NM_001005242.3(PKP2):c.1379-2045_1379-1738del rs2137836547
NM_001005242.3(PKP2):c.1379-2091A>T
NM_001005242.3(PKP2):c.1395G>C (p.Leu465Phe)
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg) rs749926313
NM_001005242.3(PKP2):c.1515G>T (p.Leu505Phe)
NM_001005242.3(PKP2):c.1523T>G (p.Phe508Cys)
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu) rs1298544159
NM_001005242.3(PKP2):c.1609G>A (p.Gly537Arg)
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile) rs1475361697
NM_001005242.3(PKP2):c.164G>T (p.Arg55Leu)
NM_001005242.3(PKP2):c.16G>A (p.Ala6Thr)
NM_001005242.3(PKP2):c.173A>G (p.Glu58Gly)
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn) rs794729112
NM_001005242.3(PKP2):c.176A>G (p.Gln59Arg)
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del) rs750084387
NM_001005242.3(PKP2):c.1795A>G (p.Lys599Glu)
NM_001005242.3(PKP2):c.1804G>A (p.Gly602Arg) rs960192135
NM_001005242.3(PKP2):c.1893G>T (p.Glu631Asp) rs879110663
NM_001005242.3(PKP2):c.1901G>T (p.Trp634Leu) rs1555142907
NM_001005242.3(PKP2):c.1957T>G (p.Tyr653Asp)
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr) rs1199864691
NM_001005242.3(PKP2):c.1981G>C (p.Ala661Pro)
NM_001005242.3(PKP2):c.1982C>T (p.Ala661Val)
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.199A>G (p.Lys67Glu) rs1555149950
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu) rs1348373466
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
NM_001005242.3(PKP2):c.2017C>A (p.Pro673Thr)
NM_001005242.3(PKP2):c.2024C>T (p.Ser675Leu)
NM_001005242.3(PKP2):c.206G>T (p.Arg69Leu) rs1388260138
NM_001005242.3(PKP2):c.2098A>G (p.Ser700Gly)
NM_001005242.3(PKP2):c.20C>A (p.Pro7Gln)
NM_001005242.3(PKP2):c.2123T>G (p.Leu708Arg)
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001005242.3(PKP2):c.2171A>G (p.Lys724Arg)
NM_001005242.3(PKP2):c.2203C>G (p.Pro735Ala)
NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile)
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn) rs543233804
NM_001005242.3(PKP2):c.224-3C>G rs786204387
NM_001005242.3(PKP2):c.2248T>G (p.Ser750Ala) rs1431341096
NM_001005242.3(PKP2):c.2287T>C (p.Tyr763His)
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys) rs139734328
NM_001005242.3(PKP2):c.230T>C (p.Leu77Pro) rs754446972
NM_001005242.3(PKP2):c.2357+2dup
NM_001005242.3(PKP2):c.2357+5G>A rs1555141020
NM_001005242.3(PKP2):c.2357C>A (p.Ala786Asp) rs1057518582
NM_001005242.3(PKP2):c.2395C>G (p.Leu799Val)
NM_001005242.3(PKP2):c.2429A>T (p.His810Leu) rs886039193
NM_001005242.3(PKP2):c.2485G>T (p.Ala829Ser) rs1046323987
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.253G>C (p.Glu85Gln)
NM_001005242.3(PKP2):c.263A>G (p.Tyr88Cys)
NM_001005242.3(PKP2):c.274T>G (p.Leu92Val) rs773851296
NM_001005242.3(PKP2):c.292G>A (p.Val98Ile)
NM_001005242.3(PKP2):c.296G>A (p.Gly99Glu)
NM_001005242.3(PKP2):c.302G>T (p.Arg101Leu)
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala) rs139215336
NM_001005242.3(PKP2):c.307C>T (p.Pro103Ser) rs139215336
NM_001005242.3(PKP2):c.323A>G (p.Tyr108Cys)
NM_001005242.3(PKP2):c.32G>A (p.Gly11Asp)
NM_001005242.3(PKP2):c.337-4G>A rs751175344
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu) rs201306582
NM_001005242.3(PKP2):c.459C>G (p.Asp153Glu)
NM_001005242.3(PKP2):c.529A>G (p.Thr177Ala) rs1956954122
NM_001005242.3(PKP2):c.533T>C (p.Leu178Pro)
NM_001005242.3(PKP2):c.549_551del (p.Ser183del) rs1358236902
NM_001005242.3(PKP2):c.56A>C (p.Gln19Pro)
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys) rs1040585677
NM_001005242.3(PKP2):c.613G>C (p.Ala205Pro)
NM_001005242.3(PKP2):c.625A>G (p.Ser209Gly)
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys) rs1555148132
NM_001005242.3(PKP2):c.635G>T (p.Arg212Leu)
NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)
NM_001005242.3(PKP2):c.671G>T (p.Gly224Val)
NM_001005242.3(PKP2):c.743C>T (p.Thr248Ile)
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu) rs369332786
NM_001005242.3(PKP2):c.755T>C (p.Met252Thr)
NM_001005242.3(PKP2):c.823G>A (p.Val275Met)
NM_001005242.3(PKP2):c.887A>C (p.His296Pro)
NM_001005242.3(PKP2):c.899C>T (p.Thr300Met) rs553098424
NM_001005242.3(PKP2):c.916C>T (p.Pro306Ser) rs1209340253
NM_001005242.3(PKP2):c.959C>T (p.Thr320Ile)
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005242.3(PKP2):c.969G>C (p.Gln323His) rs879170191
NM_001005242.3(PKP2):c.974C>G (p.Ala325Gly)
NM_001005242.3(PKP2):c.980G>C (p.Gly327Ala) rs759660796
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val) rs759660796
NM_001005242.3(PKP2):c.985A>G (p.Ser329Gly) rs779173447
NM_001005242.3(PKP2):c.989G>A (p.Gly330Glu) rs373041797
NM_001005242.3(PKP2):c.991A>G (p.Asn331Asp)

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