ClinVar Miner

List of variants in gene PKP2 reported as likely benign for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
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.1955A>G (p.Asn652Ser) rs140852019 0.00060
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.1379-2019C>T rs149930872 0.00049
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=) rs142362933 0.00034
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=) rs146144731 0.00030
NM_001005242.3(PKP2):c.696C>T (p.Asp232=) rs375677250 0.00026
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala) rs144651139 0.00026
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001005242.3(PKP2):c.198G>A (p.Arg66=) rs144106848 0.00022
NM_001005242.3(PKP2):c.1379-2068C>T rs377424658 0.00016
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836 0.00016
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001005242.3(PKP2):c.2301C>T (p.Arg767=) rs369166666 0.00015
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040 0.00013
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=) rs138901574 0.00013
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile) rs376102257 0.00012
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.2392G>A (p.Val798Ile) rs368633311 0.00011
NM_001005242.3(PKP2):c.45C>T (p.Thr15=) rs759214983 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001005242.3(PKP2):c.1379-2065G>A rs771856087 0.00009
NM_001005242.3(PKP2):c.996G>A (p.Leu332=) rs144574595 0.00009
NM_001005242.3(PKP2):c.1379-2038T>C rs781397552 0.00008
NM_001005242.3(PKP2):c.888C>T (p.His296=) rs397517029 0.00008
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=) rs148364390 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.486G>A (p.Thr162=) rs189040311 0.00006
NM_001005242.3(PKP2):c.1137C>T (p.His379=) rs754927123 0.00005
NM_001005242.3(PKP2):c.123G>T (p.Ala41=) rs757273590 0.00005
NM_001005242.3(PKP2):c.1379-2000T>A rs769899368 0.00005
NM_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001005242.3(PKP2):c.576G>A (p.Pro192=) rs373380483 0.00005
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001005242.3(PKP2):c.12C>T (p.Pro4=) rs397516991 0.00004
NM_001005242.3(PKP2):c.1379-1997G>A rs781072699 0.00004
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 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.1575C>T (p.Gly525=) rs780049494 0.00004
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=) rs727505293 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.2121G>A (p.Ser707=) rs139098675 0.00004
NM_001005242.3(PKP2):c.213C>T (p.Ser71=) rs1173618581 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372 0.00004
NM_001005242.3(PKP2):c.789G>A (p.Thr263=) rs760432217 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001005242.3(PKP2):c.963C>T (p.Val321=) rs202207343 0.00004
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=) rs397516984 0.00003
NM_001005242.3(PKP2):c.1379-2011G>A rs140301552 0.00003
NM_001005242.3(PKP2):c.1998G>A (p.Thr666=) rs371089832 0.00003
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=) rs747191995 0.00003
NM_001005242.3(PKP2):c.591C>T (p.Ser197=) rs769438623 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001005242.3(PKP2):c.1308A>G (p.Leu436=) rs1439169005 0.00002
NM_001005242.3(PKP2):c.1379-2012C>T rs760461056 0.00002
NM_001005242.3(PKP2):c.1379-2071G>A rs776244945 0.00002
NM_001005242.3(PKP2):c.1379-2103A>G rs764608036 0.00002
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=) rs760434776 0.00002
NM_001005242.3(PKP2):c.1878C>T (p.Asn626=) rs769943903 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=) rs369837002 0.00002
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=) rs199900632 0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=) rs768974835 0.00002
NM_001005242.3(PKP2):c.558C>T (p.Ala186=) rs184522105 0.00002
NM_001005242.3(PKP2):c.600G>A (p.Val200=) rs781305034 0.00002
NM_001005242.3(PKP2):c.687C>T (p.Thr229=) rs1209406571 0.00002
NM_001005242.3(PKP2):c.804C>T (p.Val268=) rs781271804 0.00002
NM_001005242.3(PKP2):c.1326G>A (p.Leu442=) rs377076035 0.00001
NM_001005242.3(PKP2):c.1379-2023C>T rs587781108 0.00001
NM_001005242.3(PKP2):c.1379-2111C>T rs1172703594 0.00001
NM_001005242.3(PKP2):c.1446G>A (p.Thr482=) rs370753286 0.00001
NM_001005242.3(PKP2):c.1515G>A (p.Leu505=) rs148533214 0.00001
NM_001005242.3(PKP2):c.1518C>T (p.Leu506=) rs1320642436 0.00001
NM_001005242.3(PKP2):c.165G>T (p.Arg55=) rs1472609900 0.00001
NM_001005242.3(PKP2):c.192C>A (p.Leu64=) rs768376044 0.00001
NM_001005242.3(PKP2):c.2046G>A (p.Gln682=) rs772622598 0.00001
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=) rs753226330 0.00001
NM_001005242.3(PKP2):c.2349A>G (p.Ala783=) rs139258347 0.00001
NM_001005242.3(PKP2):c.2391C>T (p.Ser797=) rs772225819 0.00001
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=) rs777477467 0.00001
NM_001005242.3(PKP2):c.405C>T (p.Ser135=) rs775423741 0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala) rs765195368 0.00001
NM_001005242.3(PKP2):c.525G>A (p.Gly175=) rs748807540 0.00001
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747 0.00001
NM_001005242.3(PKP2):c.837C>T (p.Pro279=) rs572938229 0.00001
NM_001005242.3(PKP2):c.903G>A (p.Leu301=) rs934225556 0.00001
NM_001005242.3(PKP2):c.909A>G (p.Glu303=) rs376001513 0.00001
NM_001005242.3(PKP2):c.915G>A (p.Gly305=) rs1274553859 0.00001
NM_001005242.3(PKP2):c.921T>C (p.Ser307=) rs941328238 0.00001
NM_001005242.3(PKP2):c.1011C>T (p.Ser337=)
NM_001005242.3(PKP2):c.1017C>T (p.Phe339=)
NM_001005242.3(PKP2):c.1029G>A (p.Gln343=)
NM_001005242.3(PKP2):c.1035G>A (p.Gly345=) rs905404609
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.111G>A (p.Lys37=)
NM_001005242.3(PKP2):c.1152A>G (p.Lys384=)
NM_001005242.3(PKP2):c.12C>A (p.Pro4=)
NM_001005242.3(PKP2):c.1359G>A (p.Glu453=) rs1158553343
NM_001005242.3(PKP2):c.1379-1972G>C
NM_001005242.3(PKP2):c.1379-2001G>T
NM_001005242.3(PKP2):c.1379-2010A>G rs1382350974
NM_001005242.3(PKP2):c.1379-2026A>G
NM_001005242.3(PKP2):c.1379-2032A>T
NM_001005242.3(PKP2):c.1379-2041C>A
NM_001005242.3(PKP2):c.1379-2068_1379-2066delinsTGT rs886038926
NM_001005242.3(PKP2):c.1379-2101A>G rs1424035271
NM_001005242.3(PKP2):c.1379-2101A>T
NM_001005242.3(PKP2):c.1464C>A (p.Ile488=)
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=) rs879043258
NM_001005242.3(PKP2):c.15C>G (p.Gly5=) rs1390632513
NM_001005242.3(PKP2):c.1779C>A (p.Ile593=) rs2137777449
NM_001005242.3(PKP2):c.1845C>T (p.Tyr615=)
NM_001005242.3(PKP2):c.1848G>A (p.Gln616=) rs759353036
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met) rs770909247
NM_001005242.3(PKP2):c.1862C>G (p.Pro621Arg) rs773061639
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=) rs1956373944
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2037A>T (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2067C>T (p.His689=) rs2137725631
NM_001005242.3(PKP2):c.2124G>T (p.Leu708=)
NM_001005242.3(PKP2):c.2168-4G>T rs376231586
NM_001005242.3(PKP2):c.2181C>T (p.Leu727=) rs1032835001
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.234C>T (p.His78=) rs1591829350
NM_001005242.3(PKP2):c.2352C>A (p.Gly784=)
NM_001005242.3(PKP2):c.2415A>G (p.Ala805=)
NM_001005242.3(PKP2):c.2418C>T (p.His806=) rs756749174
NM_001005242.3(PKP2):c.252T>G (p.Pro84=) rs1591829338
NM_001005242.3(PKP2):c.273C>T (p.His91=)
NM_001005242.3(PKP2):c.36C>T (p.Tyr12=)
NM_001005242.3(PKP2):c.405C>G (p.Ser135=)
NM_001005242.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_001005242.3(PKP2):c.429T>A (p.His143Gln)
NM_001005242.3(PKP2):c.465C>T (p.Ser155=)
NM_001005242.3(PKP2):c.474G>A (p.Arg158=)
NM_001005242.3(PKP2):c.476C>T (p.Ala159Val)
NM_001005242.3(PKP2):c.486G>C (p.Thr162=)
NM_001005242.3(PKP2):c.486G>T (p.Thr162=)
NM_001005242.3(PKP2):c.558C>A (p.Ala186=)
NM_001005242.3(PKP2):c.597C>T (p.Ile199=) rs866985131
NM_001005242.3(PKP2):c.672C>T (p.Gly224=) rs2137948758
NM_001005242.3(PKP2):c.6A>C (p.Ala2=)
NM_001005242.3(PKP2):c.717C>T (p.Ala239=) rs143777637
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_001005242.3(PKP2):c.749G>A (p.Arg250His) rs369332786
NM_001005242.3(PKP2):c.750C>T (p.Arg250=) rs1327751203
NM_001005242.3(PKP2):c.771G>A (p.Glu257=) rs1060504159
NM_001005242.3(PKP2):c.810G>A (p.Gln270=)
NM_001005242.3(PKP2):c.822G>C (p.Leu274=)
NM_001005242.3(PKP2):c.949G>A (p.Ala317Thr)
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860

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