ClinVar Miner

List of variants in gene PKP2 reported as likely pathogenic for familial isolated arrhythmogenic right ventricular dysplasia

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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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.2352C>T (p.Gly784=) rs727504509 0.00004
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.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.(?_32954329)_(32955343_?)del
NC_000012.11:g.(?_32974270)_(32977116_?)dup
NC_000012.11:g.(?_32975391)_(32977106_?)dup
NC_000012.11:g.(?_32978346)_(32996155_?)del
NC_000012.11:g.(?_32978391)_(32996200_?)del
NC_000012.11:g.(?_32993942)_(33003927_?)dup
NC_000012.11:g.(?_33021841)_(33031986_?)dup
NC_000012.11:g.(?_33031462)_(33032597_?)del
NC_000012.12:g.(?_32792634)_(32796308_?)dup
NC_000012.12:g.(?_32850756)_(32850983_?)dup
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.1058_1059del (p.Leu353fs)
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1170+2T>C rs397516987
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter) rs1555145520
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
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.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.155dup (p.Ser53fs) rs958681660
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.1719G>C (p.Gln573His) rs786205476
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.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.1A>T (p.Met1Leu)
NM_001005242.3(PKP2):c.2156del (p.Gln719fs)
NM_001005242.3(PKP2):c.2161_2167+1008del
NM_001005242.3(PKP2):c.2168-1G>A rs1060501184
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2196del (p.Ile733fs)
NM_001005242.3(PKP2):c.224-1G>A
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.2422del (p.Glu808fs) rs1353074803
NM_001005242.3(PKP2):c.2437_2445+41del rs1064792928
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr) rs1957129506
NM_001005242.3(PKP2):c.335dup (p.Ala113fs)
NM_001005242.3(PKP2):c.336+1G>A
NM_001005242.3(PKP2):c.433_434del (p.Leu145fs)
NM_001005242.3(PKP2):c.497_498del (p.Tyr166fs)
NM_001005242.3(PKP2):c.738_742dup (p.Thr248fs)
NM_001005242.3(PKP2):c.923_1034+262del
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs) rs2137946568
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005242.3(PKP2):c.962_965del (p.Val321fs) rs2137946218
NM_001005242.3(PKP2):c.962del (p.Val321fs)
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459

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