ClinVar Miner

List of variants in gene PKP2 reported by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 53
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HGVS dbSNP
NM_001005242.2(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.2(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_001005242.3(PKP2):c.1300del (p.Ala434fs)
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019
NM_001005242.3(PKP2):c.1968del (p.Ala657fs)
NM_001005242.3(PKP2):c.2002G>A (p.Gly668Arg)
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) rs139098675
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.2261C>G (p.Thr754Arg)
NM_001005242.3(PKP2):c.2357+1G>A rs111517471
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176
NM_004572.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365
NM_004572.3(PKP2):c.1170+5G>A rs794729105
NM_004572.3(PKP2):c.1171-2A>G rs794729133
NM_004572.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_004572.3(PKP2):c.1377A>T (p.Thr459=) rs1565590176
NM_004572.3(PKP2):c.1436G>A (p.Cys479Tyr) rs1408803372
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.1745T>C (p.Leu582Pro) rs1565581687
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.2019C>T (p.Gly673=) rs368325383
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_004572.3(PKP2):c.240C>G (p.Thr80=) rs1565599860
NM_004572.3(PKP2):c.2615C>T (p.Thr872Ile) rs370599966
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004572.3(PKP2):c.775G>T (p.Glu259Ter) rs1425855043
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343
NM_004572.3(PKP2):c.974C>T (p.Ala325Val) rs201803918

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