ClinVar Miner

List of variants in gene PKP2 reported as pathogenic by Ambry Genetics

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Total variants: 19
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HGVS dbSNP
NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986
NM_004572.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_004572.3(PKP2):c.1219C>T (p.Gln407Ter) rs1555145520
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.1511-2A>T rs1453983744
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1643del (p.Gly548fs) rs794729137
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004572.3(PKP2):c.1903del (p.Arg635fs) rs1555142984
NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) rs397517013
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2197_2202delinsG (p.His733fs) rs397517021
NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.2489+1G>A rs111517471
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619
NM_004572.3(PKP2):c.795_811dup (p.Val271fs) rs1555148090

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