ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance for Cardiomyopathy

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Total variants: 37
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HGVS dbSNP
NM_004572.3(PKP2):c.1114G>A (p.Ala372Thr)
NM_004572.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365
NM_004572.3(PKP2):c.1328T>C (p.Leu443Pro) rs1314470423
NM_004572.3(PKP2):c.136C>A (p.Arg46Ser) rs764116301
NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) rs138538072
NM_004572.3(PKP2):c.1436G>A (p.Cys479Tyr) rs1408803372
NM_004572.3(PKP2):c.1487T>A (p.Val496Asp) rs769899368
NM_004572.3(PKP2):c.1526T>C (p.Leu509Ser) rs374163198
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_004572.3(PKP2):c.1651G>A (p.Asp551Asn) rs763427502
NM_004572.3(PKP2):c.1745T>C (p.Leu582Pro) rs1565581687
NM_004572.3(PKP2):c.1811C>T (p.Thr604Met) rs373360192
NM_004572.3(PKP2):c.1839C>G (p.Asn613Lys) rs1254113735
NM_004572.3(PKP2):c.1907A>T (p.Asn636Ile) rs1264675248
NM_004572.3(PKP2):c.2019C>T (p.Gly673=) rs368325383
NM_004572.3(PKP2):c.2075A>G (p.Lys692Arg) rs776915959
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.2129C>T (p.Thr710Met) rs397517016
NM_004572.3(PKP2):c.2431C>T (p.Arg811Cys) rs139734328
NM_004572.3(PKP2):c.2434G>A (p.Asp812Asn) rs200947767
NM_004572.3(PKP2):c.2453G>T (p.Gly818Val) rs1192534020
NM_004572.3(PKP2):c.2534A>G (p.Tyr845Cys) rs1060501187
NM_004572.3(PKP2):c.2631C>A (p.His877Gln) rs202094467
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.307C>G (p.Pro103Ala) rs139215336
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.373A>G (p.Arg125Gly) rs1565599588
NM_004572.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905
NM_004572.3(PKP2):c.748C>A (p.Arg250Ser) rs577631447
NM_004572.3(PKP2):c.928G>A (p.Val310Met) rs768396351
NM_004572.3(PKP2):c.941G>A (p.Gly314Glu) rs139903989
NM_004572.3(PKP2):c.974C>T (p.Ala325Val)
NM_004572.3(PKP2):c.983G>C (p.Gly328Ala) rs144651139

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