ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001005242.3(PKP2):c.*1246C>T rs187618849 0.00064
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001005242.3(PKP2):c.*330A>G rs375759731 0.00023
NM_001005242.3(PKP2):c.*110T>G rs575103888 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001005242.3(PKP2):c.*22G>A rs371003054 0.00021
NM_001005242.3(PKP2):c.*839C>T rs542578192 0.00018
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=) rs3748278 0.00011
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.*932C>A rs766792445 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001005242.3(PKP2):c.1379-2038T>C rs781397552 0.00008
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001005242.3(PKP2):c.*215G>A rs886049318 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001005242.3(PKP2):c.1379-2000T>A rs769899368 0.00005
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001005242.3(PKP2):c.*41G>A rs754465954 0.00004
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln) rs370868564 0.00004
NM_001005242.3(PKP2):c.1379-1997G>A rs781072699 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 0.00004
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=) rs145387575 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.*227T>C rs886049317 0.00003
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084 0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001005242.3(PKP2):c.*1220A>G rs886049306 0.00002
NM_001005242.3(PKP2):c.*607A>C rs187797390 0.00002
NM_001005242.3(PKP2):c.1379-2012C>T rs760461056 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala) rs867374780 0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=) rs768974835 0.00002
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=) rs779749104 0.00001
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) rs763749576 0.00001
NM_001005242.3(PKP2):c.1840-5G>C rs752016948 0.00001
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu) rs758834771 0.00001
NM_001005242.3(PKP2):c.2455A>G (p.Lys819Glu) rs1235732912 0.00001
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn) rs886049322 0.00001
NM_001005242.3(PKP2):c.837C>T (p.Pro279=) rs572938229 0.00001
NM_001005242.3(PKP2):c.921T>C (p.Ser307=) rs941328238 0.00001
NM_001005242.3(PKP2):c.*1023C>T rs886049309
NM_001005242.3(PKP2):c.*1048G>T rs886049308
NM_001005242.3(PKP2):c.*1159A>T rs886049307
NM_001005242.3(PKP2):c.*1527G>A rs1238128272
NM_001005242.3(PKP2):c.*1602A>G rs760973876
NM_001005242.3(PKP2):c.*180C>G rs886049319
NM_001005242.3(PKP2):c.*252A>G rs886049316
NM_001005242.3(PKP2):c.*320C>A rs886049315
NM_001005242.3(PKP2):c.*400A>G rs529644235
NM_001005242.3(PKP2):c.*429A>T rs1956071585
NM_001005242.3(PKP2):c.*579C>A rs886049314
NM_001005242.3(PKP2):c.*753C>G rs886049313
NM_001005242.3(PKP2):c.*910C>A rs886049312
NM_001005242.3(PKP2):c.*953C>A rs886049311
NM_001005242.3(PKP2):c.*962C>A rs886049310
NM_001005242.3(PKP2):c.-15G>T rs886049325
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn) rs1215591759
NM_001005242.3(PKP2):c.1180C>T (p.Leu394Phe) rs886049321
NM_001005242.3(PKP2):c.1189A>G (p.Ile397Val) rs1956691539
NM_001005242.3(PKP2):c.1379-2027A>G rs778247181
NM_001005242.3(PKP2):c.1602A>T (p.Arg534Ser) rs1956409909
NM_001005242.3(PKP2):c.1675-3C>T rs1592737932
NM_001005242.3(PKP2):c.187A>C (p.Thr63Pro) rs886049324
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2190G>A (p.Leu730=) rs886049320
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2445+11G>T rs1356336963
NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg) rs775572104
NM_001005242.3(PKP2):c.38T>A (p.Ile13Asn) rs775889367
NM_001005242.3(PKP2):c.470A>T (p.Glu157Val) rs886049323
NM_001005242.3(PKP2):c.489C>T (p.His163=) rs771398047

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