ClinVar Miner

List of variants in gene PKP2 reported by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_004572.3(PKP2):c.*1023C>T rs886049309
NM_004572.3(PKP2):c.*1048G>T rs886049308
NM_004572.3(PKP2):c.*110T>G rs575103888
NM_004572.3(PKP2):c.*1159A>T rs886049307
NM_004572.3(PKP2):c.*1196G>A rs1046138
NM_004572.3(PKP2):c.*1199delT rs11476598
NM_004572.3(PKP2):c.*1220A>G rs886049306
NM_004572.3(PKP2):c.*1246C>T rs187618849
NM_004572.3(PKP2):c.*1271G>C rs12314796
NM_004572.3(PKP2):c.*1311delT rs3833501
NM_004572.3(PKP2):c.*1431G>A rs1046150
NM_004572.3(PKP2):c.*1563G>T rs1046154
NM_004572.3(PKP2):c.*1602A>G rs760973876
NM_004572.3(PKP2):c.*180C>G rs886049319
NM_004572.3(PKP2):c.*215G>A rs886049318
NM_004572.3(PKP2):c.*227T>C rs886049317
NM_004572.3(PKP2):c.*22G>A rs371003054
NM_004572.3(PKP2):c.*251C>G rs12612
NM_004572.3(PKP2):c.*252A>G rs886049316
NM_004572.3(PKP2):c.*281A>G rs78540632
NM_004572.3(PKP2):c.*320C>A rs886049315
NM_004572.3(PKP2):c.*330A>G rs375759731
NM_004572.3(PKP2):c.*400A>G rs529644235
NM_004572.3(PKP2):c.*41G>A rs754465954
NM_004572.3(PKP2):c.*48dupA rs369140281
NM_004572.3(PKP2):c.*578_*583dupACTTAA rs137947383
NM_004572.3(PKP2):c.*579C>A rs886049314
NM_004572.3(PKP2):c.*607A>C rs187797390
NM_004572.3(PKP2):c.*646G>A rs144983891
NM_004572.3(PKP2):c.*683T>C rs144110140
NM_004572.3(PKP2):c.*753C>G rs886049313
NM_004572.3(PKP2):c.*812C>T rs9394
NM_004572.3(PKP2):c.*839C>T rs542578192
NM_004572.3(PKP2):c.*910C>A rs886049312
NM_004572.3(PKP2):c.*932C>A rs766792445
NM_004572.3(PKP2):c.*944C>A rs6488090
NM_004572.3(PKP2):c.*953C>A rs886049311
NM_004572.3(PKP2):c.*962C>A rs886049310
NM_004572.3(PKP2):c.-116C>T rs187291890
NM_004572.3(PKP2):c.-15G>T rs886049325
NM_004572.3(PKP2):c.-22C>G rs373925978
NM_004572.3(PKP2):c.-51C>T rs886049326
NM_004572.3(PKP2):c.-70C>T rs886049327
NM_004572.3(PKP2):c.-79G>T rs886049328
NM_004572.3(PKP2):c.-90G>T rs552373947
NM_004572.3(PKP2):c.-96_-92dupAGCGG rs886049329
NM_004572.3(PKP2):c.-99T>C rs565997897
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1180C>T (p.Leu394Phe) rs886049321
NM_004572.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.1460A>G (p.Gln487Arg) rs778247181
NM_004572.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084
NM_004572.3(PKP2):c.1490G>A (p.Arg497Gln) rs781072699
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.1584G>A (p.Thr528=) rs727504098
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.187A>C (p.Thr63Pro) rs886049324
NM_004572.3(PKP2):c.1972-5G>C rs752016948
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2299+7C>T rs74072938
NM_004572.3(PKP2):c.2322G>A (p.Leu774=) rs886049320
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2489+13_2489+14insC rs149968852
NM_004572.3(PKP2):c.2636T>G (p.Leu879Arg) rs775572104
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_004572.3(PKP2):c.470A>T (p.Glu157Val) rs886049323
NM_004572.3(PKP2):c.489C>T (p.His163=) rs771398047
NM_004572.3(PKP2):c.493G>A (p.Asp165Asn) rs886049322
NM_004572.3(PKP2):c.611G>A (p.Arg204His) rs755215178
NM_004572.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.837C>T (p.Pro279=) rs572938229

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