ClinVar Miner

List of variants in gene PKP2 reported as likely pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 33
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HGVS dbSNP
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
NM_004572.3(PKP2):c.1034+1G>T rs869025496
NM_004572.3(PKP2):c.1034+1del rs1555148011
NM_004572.3(PKP2):c.1035-1G>A rs1555147210
NM_004572.3(PKP2):c.1170+2T>A rs397516987
NM_004572.3(PKP2):c.1271T>C (p.Phe424Ser) rs397516990
NM_004572.3(PKP2):c.1301dup (p.Ala434_Glu435insTer) rs876657659
NM_004572.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_004572.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1614G>A (p.Trp538Ter) rs397517001
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.1709del (p.Ala570fs) rs397517005
NM_004572.3(PKP2):c.1759del (p.Val587fs) rs397517008
NM_004572.3(PKP2):c.1760del (p.Val587fs) rs397517009
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004572.3(PKP2):c.1840del (p.Leu614fs) rs1555142994
NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) rs397517013
NM_004572.3(PKP2):c.2119C>T (p.Gln707Ter) rs397517017
NM_004572.3(PKP2):c.2334_2338delinsCAGT (p.Pro779fs) rs397517022
NM_004572.3(PKP2):c.2489+1G>T rs111517471
NM_004572.3(PKP2):c.2509del (p.Ser837fs) rs727504432
NM_004572.3(PKP2):c.2551del (p.Thr851fs) rs727504786
NM_004572.3(PKP2):c.269_272del (p.Leu90fs) rs397517025
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.533dup (p.His179fs) rs769220833
NM_004572.3(PKP2):c.654_655delCA
NM_004572.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_004572.3(PKP2):c.951_983delinsAC (p.His318fs) rs397517030
NM_004572.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_004572.3(PKP2):c.968_975dup (p.Ala326fs) rs1555148032

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