ClinVar Miner

List of variants in gene PKP2 reported as likely pathogenic for Cardiomyopathy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NC_000012.12:g.32843315_32868927del
NM_001005242.3(PKP2):c.1034+1G>T rs869025496
NM_001005242.3(PKP2):c.1170+1G>A rs786204392
NM_001005242.3(PKP2):c.1171-1_1556+1del
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_001005242.3(PKP2):c.1300del (p.Ala434fs) rs1956689333
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_001005242.3(PKP2):c.1378+1G>A rs397516994
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
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.1968del (p.Ala657fs) rs1956374971
NM_001005242.3(PKP2):c.2084_2085del (p.His695fs)
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.223G>T (p.Gly75Ter)
NM_001005242.3(PKP2):c.2437_2445+41del rs1064792928
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr) rs1957129506
NM_001005242.3(PKP2):c.636delinsAA (p.His213fs) rs2137948943
NM_001005242.3(PKP2):c.954_984del (p.His318fs) rs1956945634
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459

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