ClinVar Miner

List of variants in gene PKP2 reported as likely pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001005242.3(PKP2):c.1034+1G>A rs869025496 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.2446-2A>C rs1060501188 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NC_000012.11:g.(?_32945558)_(32949252_?)dup
NC_000012.11:g.(?_32949023)_(32949252_?)del
NC_000012.11:g.(?_32949033)_(32949242_?)del
NC_000012.11:g.(?_32974270)_(32977116_?)dup
NC_000012.11:g.(?_32975391)_(32977106_?)dup
NC_000012.11:g.(?_32993942)_(33003927_?)dup
NC_000012.11:g.(?_33021841)_(33031986_?)dup
NC_000012.12:g.(?_32792634)_(32796308_?)dup
NC_000012.12:g.(?_32850756)_(32850983_?)dup
NC_000012.12:g.32843315_32868927del
NM_001005242.3(PKP2):c.102dup (p.Glu35fs)
NM_001005242.3(PKP2):c.1034+1G>C rs869025496
NM_001005242.3(PKP2):c.1034+1G>T rs869025496
NM_001005242.3(PKP2):c.1034+1del rs1555148011
NM_001005242.3(PKP2):c.1035-1G>A rs1555147210
NM_001005242.3(PKP2):c.1058_1059del (p.Leu353fs)
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro) rs730880180
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1170+1G>A rs786204392
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1170+2T>C rs397516987
NM_001005242.3(PKP2):c.1171-1_1556+1del
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter) rs1555145520
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser) rs397516990
NM_001005242.3(PKP2):c.1300del (p.Ala434fs) rs1956689333
NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer) rs876657659
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) 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.1378+2T>A rs762103704
NM_001005242.3(PKP2):c.1379-1976G>A rs1332615728
NM_001005242.3(PKP2):c.1379-2045_1379-1738del rs2137836547
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.1382del (p.Leu461fs)
NM_001005242.3(PKP2):c.1391_1406del (p.Asn464fs) rs2137830958
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005242.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_001005242.3(PKP2):c.1577del (p.Ala526fs) rs397517005
NM_001005242.3(PKP2):c.1584del (p.Arg529fs) rs1592738654
NM_001005242.3(PKP2):c.1627del (p.Val543fs) rs397517008
NM_001005242.3(PKP2):c.1628del (p.Val543fs) rs397517009
NM_001005242.3(PKP2):c.1675-2A>G rs2137778300
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1708del (p.Leu570fs) rs1555142994
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) rs1555142971
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.1839+2T>A
NM_001005242.3(PKP2):c.1840-1G>C rs2137774389
NM_001005242.3(PKP2):c.1883_1887delinsG (p.Lys628fs)
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr) rs757922359
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.1968del (p.Ala657fs) rs1956374971
NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter) rs397517017
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.1A>T (p.Met1Leu)
NM_001005242.3(PKP2):c.2084_2085del (p.His695fs)
NM_001005242.3(PKP2):c.2156del (p.Gln719fs)
NM_001005242.3(PKP2):c.2161_2167+1008del
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2168-1G>A rs1060501184
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) rs397517022
NM_001005242.3(PKP2):c.223G>T (p.Gly75Ter)
NM_001005242.3(PKP2):c.224-1G>A
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) rs786204395
NM_001005242.3(PKP2):c.2346del (p.Ser782fs)
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2358-1_2358delinsTT rs1956082403
NM_001005242.3(PKP2):c.2358-2A>G rs1956082474
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2419del (p.Thr807fs) rs727504786
NM_001005242.3(PKP2):c.2437_2445+41del rs1064792928
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs) rs397517025
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr) rs1957129506
NM_001005242.3(PKP2):c.335dup (p.Ala113fs)
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.433_434del (p.Leu145fs)
NM_001005242.3(PKP2):c.636delinsAA (p.His213fs) rs2137948943
NM_001005242.3(PKP2):c.654_655del (p.His218fs) rs1591828796
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.923_1034+262del
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs) rs2137946568
NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs) rs397517030
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005242.3(PKP2):c.954_984del (p.His318fs) rs1956945634
NM_001005242.3(PKP2):c.962_965del (p.Val321fs) rs2137946218
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs) rs1555148032
NM_001005242.3(PKP2):c.983dup (p.Ser329fs) rs786205353
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459

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