ClinVar Miner

List of variants in gene PKP2 reported as pathogenic for Arrhythmogenic right ventricular dysplasia 9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001005242.3(PKP2):c.1171-2A>G rs794729133 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.1671del (p.Asp557fs) rs794729129 0.00001
NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter) rs1486464304 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter) rs1158333072 0.00001
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter) rs762753884 0.00001
NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter) rs763303290 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
GRCh37/hg19 12p11.21(chr12:32974270-32977116)x3
NC_000012.11:g.(?_32945338)_(32977116_?)del
NC_000012.11:g.(?_32945348)_(32949242_?)del
NC_000012.11:g.(?_32945358)_(32949252_?)del
NC_000012.11:g.(?_32945358)_(33049665_?)del
NC_000012.11:g.(?_32949023)_(32955510_?)del
NC_000012.11:g.(?_32949033)_(32955500_?)del
NC_000012.11:g.(?_32993942)_(33003927_?)del
NC_000012.11:g.(?_33003680)_(33003927_?)del
NC_000012.11:g.(?_33003694)_(33003913_?)del
NC_000012.11:g.(?_33021841)_(33022016_?)del
NC_000012.11:g.(?_33021841)_(33031986_?)del
NC_000012.11:g.(?_33021851)_(33031976_?)del
NC_000012.11:g.(?_33030760)_(33031986_?)del
NC_000012.11:g.(?_33030760)_(33049665_?)del
NC_000012.11:g.(?_33031916)_(33033605_?)del
NC_000012.11:g.(?_33049423)_(33049665_?)del
NC_000012.12:g.(?_32792414)_(32896741_?)del
NC_000012.12:g.(?_32802383)_(32802576_?)del
NC_000012.12:g.(?_32824025)_(32824182_?)del
NC_000012.12:g.(?_32824035)_(32824172_?)del
NC_000012.12:g.(?_32850756)_(32850983_?)del
NC_000012.12:g.(?_32868917)_(32869072_?)del
NC_000012.12:g.(?_32877836)_(32879042_?)del
NC_000012.12:g.(?_32877836)_(32896741_?)del
NC_000012.12:g.(?_32877846)_(32879032_?)del
NM_001005242.3(PKP2):c.1002_1003del (p.Arg336fs)
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter) rs1396519956
NM_001005242.3(PKP2):c.1007_1008del (p.Arg336fs)
NM_001005242.3(PKP2):c.103G>T (p.Glu35Ter)
NM_001005242.3(PKP2):c.1087_1088del (p.Asp363fs)
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs) rs794729124
NM_001005242.3(PKP2):c.1127del (p.Phe376fs) rs2137919527
NM_001005242.3(PKP2):c.1170+1G>A rs786204392
NM_001005242.3(PKP2):c.1170+1G>C
NM_001005242.3(PKP2):c.1170+1G>T
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1204C>T (p.Gln402Ter)
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1217_1379-790inv
NM_001005242.3(PKP2):c.121del (p.Ala41fs)
NM_001005242.3(PKP2):c.1252del (p.Ala418fs) rs1555145509
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1295_1323dup (p.Leu442delinsArgTrpLeuAsnTer)
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_001005242.3(PKP2):c.1355T>A (p.Leu452Ter)
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
NM_001005242.3(PKP2):c.1368dup (p.Gln457fs) rs1393661338
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_001005242.3(PKP2):c.1378+1G>A rs397516994
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1379-1992C>T rs2137837678
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
NM_001005242.3(PKP2):c.1379-2091A>T
NM_001005242.3(PKP2):c.1379-2A>G rs1453983744
NM_001005242.3(PKP2):c.1388G>A (p.Trp463Ter) rs2137831087
NM_001005242.3(PKP2):c.1389G>A (p.Trp463Ter)
NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs) rs794729125
NM_001005242.3(PKP2):c.1410del (p.Lys470fs) rs1565586958
NM_001005242.3(PKP2):c.1419_1420insTCAAGAAC (p.Leu474fs)
NM_001005242.3(PKP2):c.1434dup (p.Ala479fs) rs1565586921
NM_001005242.3(PKP2):c.1439del (p.Leu480fs)
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer) rs794729126
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.1465_1468del (p.Ile489fs)
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.148_151dup (p.Val51fs)
NM_001005242.3(PKP2):c.1491del (p.Asp498fs)
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs) rs1318070848
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.152_153del (p.Val51fs) rs1957127435
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs) rs1064796069
NM_001005242.3(PKP2):c.1557-2A>G rs1555143143
NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs) rs1555143134
NM_001005242.3(PKP2):c.1616_1623dup (p.Val543fs) rs2137783366
NM_001005242.3(PKP2):c.1625del (p.Leu542fs) rs1060501182
NM_001005242.3(PKP2):c.1667del (p.Asp556fs) rs794729128
NM_001005242.3(PKP2):c.1673del (p.Lys558fs)
NM_001005242.3(PKP2):c.1680_1681delinsTT (p.Glu561Ter)
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe) rs1060501186
NM_001005242.3(PKP2):c.1716C>G (p.Tyr572Ter)
NM_001005242.3(PKP2):c.1738G>T (p.Glu580Ter) rs1956391770
NM_001005242.3(PKP2):c.173dup (p.Gln59fs)
NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs)
NM_001005242.3(PKP2):c.1750C>T (p.Gln584Ter) rs2137777670
NM_001005242.3(PKP2):c.1757del (p.Ile586fs)
NM_001005242.3(PKP2):c.175C>T (p.Gln59Ter) rs1957126844
NM_001005242.3(PKP2):c.1769del (p.Asn590fs) rs1064793231
NM_001005242.3(PKP2):c.1771del (p.Arg591fs) rs1555142984
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1842dup (p.Tyr615fs) rs1956378850
NM_001005242.3(PKP2):c.1881del (p.Lys628fs) rs764817683
NM_001005242.3(PKP2):c.1883del (p.Lys628fs)
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter)
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs) rs1064792929
NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter)
NM_001005242.3(PKP2):c.1968del (p.Ala657fs) rs1956374971
NM_001005242.3(PKP2):c.198del (p.Lys67fs) rs1555149952
NM_001005242.3(PKP2):c.1999del (p.Ala667fs)
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.2013+2T>C
NM_001005242.3(PKP2):c.2014-1_2014del
NM_001005242.3(PKP2):c.2035_2038del (p.Thr679fs)
NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter) rs1325285497
NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter) rs1956192249
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter) rs1956192035
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2066_2070del (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs) rs878854710
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs) rs1592729525
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2167+1G>C
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) rs397517022
NM_001005242.3(PKP2):c.224-1639_274del
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2276del (p.Ile759fs) rs1956120988
NM_001005242.3(PKP2):c.2282del (p.Asn761fs) rs1956120794
NM_001005242.3(PKP2):c.2289C>A (p.Tyr763Ter)
NM_001005242.3(PKP2):c.2289C>G (p.Tyr763Ter)
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs)
NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2404del (p.Ser802fs)
NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs) rs2137698036
NM_001005242.3(PKP2):c.2422del (p.Glu808fs) rs1353074803
NM_001005242.3(PKP2):c.2446-1G>A
NM_001005242.3(PKP2):c.251del (p.Pro84fs)
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter) rs2137953226
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter) rs763639737
NM_001005242.3(PKP2):c.296_300dup (p.Arg101fs) rs2137952811
NM_001005242.3(PKP2):c.308_309del (p.Pro103fs)
NM_001005242.3(PKP2):c.329dup (p.Met110fs) rs2137952495
NM_001005242.3(PKP2):c.336+1G>T rs2137952423
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.371del (p.Gly124fs)
NM_001005242.3(PKP2):c.379dup (p.Thr127fs) rs2137950985
NM_001005242.3(PKP2):c.385C>T (p.Gln129Ter)
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_001005242.3(PKP2):c.409del (p.Glu137fs)
NM_001005242.3(PKP2):c.464dup (p.Ser155fs) rs2137950376
NM_001005242.3(PKP2):c.472_473del (p.Arg158fs) rs2137950267
NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter) rs1565599473
NM_001005242.3(PKP2):c.517C>T (p.Gln173Ter) rs794729103
NM_001005242.3(PKP2):c.544del (p.Glu182fs)
NM_001005242.3(PKP2):c.582T>A (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.604dup (p.Val202fs)
NM_001005242.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_001005242.3(PKP2):c.653dup (p.His218fs)
NM_001005242.3(PKP2):c.654_655del (p.His218fs) rs1591828796
NM_001005242.3(PKP2):c.654_679dup (p.Ser227fs)
NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter) rs886041322
NM_001005242.3(PKP2):c.67G>T (p.Gly23Ter)
NM_001005242.3(PKP2):c.68del (p.Gly23fs) rs1555149975
NM_001005242.3(PKP2):c.704_708dup (p.Asn237fs)
NM_001005242.3(PKP2):c.70C>T (p.Gln24Ter)
NM_001005242.3(PKP2):c.759_769del (p.Asn254fs) rs2137948074
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter) rs1425855043
NM_001005242.3(PKP2):c.808C>T (p.Gln270Ter)
NM_001005242.3(PKP2):c.870G>A (p.Trp290Ter)
NM_001005242.3(PKP2):c.874C>T (p.Gln292Ter)
NM_001005242.3(PKP2):c.916_931del (p.Pro306fs)
NM_001005242.3(PKP2):c.921dup (p.Val308fs)
NM_001005242.3(PKP2):c.929_951dup (p.His318fs) rs1064792927
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005242.3(PKP2):c.958_979del (p.Thr320fs)
NM_001005242.3(PKP2):c.962_965del (p.Val321fs) rs2137946218
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
NM_001005242.3(PKP2):c.966_967del (p.Gln323fs) rs2137946195
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_001005242.3(PKP2):c.983dup (p.Ser329fs) rs786205353
NM_001005242.3(PKP2):c.986_992del (p.Ser329fs) rs1373300155
NM_001005242.3(PKP2):c.987del (p.Ser329fs) rs1432861552
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.2146-?_2489+?del
NM_004572.3:c.224_1034del

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