ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance for not specified

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Gene type:
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Total variants: 89
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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.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00070
NM_001005242.3(PKP2):c.1379-2054C>T rs144620127 0.00053
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
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.1379-2018G>A rs369518480 0.00013
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
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.194C>T (p.Ala65Val) rs139924723 0.00008
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp) rs767935208 0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195 0.00005
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 0.00004
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr) rs558637427 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val) rs143503798 0.00004
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln) rs397517020 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.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
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.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu) rs866789949 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val) rs1565596114 0.00001
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp) rs898915439 0.00001
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr) rs397517011 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys) rs727503370 0.00001
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro) rs878854709 0.00001
NM_001005242.3(PKP2):c.222C>A (p.Asn74Lys) rs753180642 0.00001
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp) rs727504950 0.00001
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu) rs267603443 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg) rs397517026 0.00001
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027 0.00001
NM_001005242.3(PKP2):c.516C>A (p.Ser172Arg) rs397517028 0.00001
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949 0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala) rs756604557 0.00001
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1034+4del rs397516983
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr) rs200586695
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1379-1966del rs1555144717
NM_001005242.3(PKP2):c.1379-1985A>G rs1193122924
NM_001005242.3(PKP2):c.1379-2049A>G rs727505257
NM_001005242.3(PKP2):c.1448T>C (p.Leu483Pro) rs397517000
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_001005242.3(PKP2):c.1648A>G (p.Ile550Val) rs727503371
NM_001005242.3(PKP2):c.1696A>G (p.Ile566Val) rs794729110
NM_001005242.3(PKP2):c.1928T>G (p.Leu643Arg) rs794729113
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe) rs397517018
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=) rs1956373944
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu) rs397517019
NM_001005242.3(PKP2):c.2168-8T>C rs1565572439
NM_001005242.3(PKP2):c.2182C>T (p.Pro728Ser)
NM_001005242.3(PKP2):c.2183C>T (p.Pro728Leu)
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg) rs145553222
NM_001005242.3(PKP2):c.224-3C>G rs786204387
NM_001005242.3(PKP2):c.2357C>A (p.Ala786Asp) rs1057518582
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys) rs727505312
NM_001005242.3(PKP2):c.2445+1G>A rs1060499891
NM_001005242.3(PKP2):c.2446-10dup rs397517024
NM_001005242.3(PKP2):c.2446-8T>G rs794729101
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.337-9C>A rs781357829
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile) rs876657953
NM_001005242.3(PKP2):c.926_928dup (p.Ala309dup) rs869025497
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860

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