ClinVar Miner

List of variants in gene PKP2 reported as benign for arrhythmogenic right ventricular dysplasia 9

Included ClinVar conditions (1):
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Total variants: 47
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HGVS dbSNP
NM_001005242.3(PKP2):c.-22C>G rs373925978
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_001005242.3(PKP2):c.1171-11T>C rs183414126
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
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.1509T>C (p.Asn503=) rs143782040
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-13dup rs200009796
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=) rs146144731
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001005242.3(PKP2):c.2167+7C>T rs74072938
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_001005242.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176
NM_004572.3(PKP2):c.*1196G>A rs1046138
NM_004572.3(PKP2):c.*1271G>C rs12314796
NM_004572.3(PKP2):c.*1431G>A rs1046150
NM_004572.3(PKP2):c.*1563G>T rs1046154
NM_004572.3(PKP2):c.*251C>G rs12612
NM_004572.3(PKP2):c.*812C>T rs9394
NM_004572.3(PKP2):c.*944C>A rs6488090
NM_004572.3(PKP2):c.1034+10C>T rs759397762
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.1419C>T (p.Gly473=) rs377424658
NM_004572.3(PKP2):c.2300-20dup rs746936605
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_004572.3(PKP2):c.2300-6T>C rs368531764

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