ClinVar Miner

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

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Gene type:
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Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala) rs144651139 0.00026
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001005242.3(PKP2):c.928G>A (p.Val310Met) rs768396351 0.00017
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.336+17T>G rs185681814 0.00016
NM_001005242.3(PKP2):c.1379-2066C>T rs373399921 0.00014
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile) rs376102257 0.00012
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn) rs143954425 0.00012
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.2392G>A (p.Val798Ile) rs368633311 0.00011
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001005242.3(PKP2):c.2360A>G (p.Tyr787Cys) rs200411128 0.00007
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr) rs201487421 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met) rs774942476 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.974C>T (p.Ala325Val) rs201803918 0.00005
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn) rs144401285 0.00004
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln) rs370868564 0.00004
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln) rs200715477 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 0.00004
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp) rs200343561 0.00004
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly) rs775103879 0.00004
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr) rs779926314 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.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911 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.634C>T (p.Arg212Cys) rs766379716 0.00004
NM_001005242.3(PKP2):c.789G>A (p.Thr263=) rs760432217 0.00004
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.1796A>G (p.Lys599Arg) rs533659697 0.00003
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly) rs375295635 0.00003
NM_001005242.3(PKP2):c.1948G>A (p.Val650Ile) rs747525514 0.00003
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp) rs879210282 0.00003
NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser) rs764645176 0.00003
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg) rs794729115 0.00003
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg) rs372729739 0.00003
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val) rs199957846 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg) rs776915959 0.00002
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His) rs758813231 0.00002
NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln) rs547215531 0.00002
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr) rs543233804 0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033 0.00002
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr) rs1193697338 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.1181T>A (p.Leu394His) rs766842360 0.00001
NM_001005242.3(PKP2):c.1379-1983C>T rs377000496 0.00001
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser) rs374163198 0.00001
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) rs763749576 0.00001
NM_001005242.3(PKP2):c.1492G>A (p.Asp498Asn) rs879068263 0.00001
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142 0.00001
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp) rs898915439 0.00001
NM_001005242.3(PKP2):c.1579G>A (p.Asp527Asn) rs764193250 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.1840-5G>C rs752016948 0.00001
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro) rs878854709 0.00001
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His) rs765884775 0.00001
NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser) rs767496004 0.00001
NM_001005242.3(PKP2):c.2176A>T (p.Thr726Ser) rs1249551566 0.00001
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val) rs556563706 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 0.00001
NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro) rs768463319 0.00001
NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser) rs117425357 0.00001
NM_001005242.3(PKP2):c.2438A>T (p.Tyr813Phe) rs751287217 0.00001
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=) rs777477467 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001005242.3(PKP2):c.428A>G (p.His143Arg) rs1448551311 0.00001
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg) rs397517026 0.00001
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu) rs766360871 0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala) rs765195368 0.00001
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu) rs748566573 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 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.941G>A (p.Gly314Glu) rs139903989 0.00001
GRCh37/hg19 12p11.21(chr12:33009779-33085304)x3
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1078C>T (p.Leu360Phe) rs2137919913
NM_001005242.3(PKP2):c.107C>T (p.Ala36Val)
NM_001005242.3(PKP2):c.113T>G (p.Leu38Arg) rs1957127907
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro) rs756000218
NM_001005242.3(PKP2):c.1170+5G>A rs794729105
NM_001005242.3(PKP2):c.1171-5_1171-2dup rs2137863489
NM_001005242.3(PKP2):c.1246T>C (p.Cys416Arg) rs1555145510
NM_001005242.3(PKP2):c.1367A>G (p.Lys456Arg) rs750897570
NM_001005242.3(PKP2):c.1377A>G (p.Thr459=) rs1565590176
NM_001005242.3(PKP2):c.1379-2097A>C rs1555144761
NM_001005242.3(PKP2):c.1432G>A (p.Glu478Lys) rs1956588010
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg) rs397516998
NM_001005242.3(PKP2):c.1520A>G (p.Asp507Gly) rs1555144465
NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe) rs794729134
NM_001005242.3(PKP2):c.1616T>C (p.Ile539Thr) rs1956409566
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=) rs1555143127
NM_001005242.3(PKP2):c.1666G>A (p.Asp556Asn) rs747627830
NM_001005242.3(PKP2):c.1699C>T (p.Leu567Phe) rs1956392593
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn) rs794729112
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del) rs750084387
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met) rs770909247
NM_001005242.3(PKP2):c.1928T>G (p.Leu643Arg) rs794729113
NM_001005242.3(PKP2):c.1967A>G (p.Glu656Gly) rs2137773018
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe) rs397517018
NM_001005242.3(PKP2):c.202G>A (p.Gly68Ser) rs794729114
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile) rs1565574704
NM_001005242.3(PKP2):c.2126T>C (p.Leu709Pro) rs777577592
NM_001005242.3(PKP2):c.212C>G (p.Ser71Cys)
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg) rs145553222
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn) rs543233804
NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser) rs1592726250
NM_001005242.3(PKP2):c.2332A>T (p.Ile778Phe) rs145324631
NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr) rs768808114
NM_001005242.3(PKP2):c.2408T>C (p.Leu803Pro) rs1064794215
NM_001005242.3(PKP2):c.2431C>A (p.His811Asn) rs1592724489
NM_001005242.3(PKP2):c.2446-8T>G rs794729101
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.2508del (p.Asp837fs)
NM_001005242.3(PKP2):c.250C>T (p.Pro84Ser) rs756468173
NM_001005242.3(PKP2):c.277G>T (p.Val93Phe) rs1201468352
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala) rs139215336
NM_001005242.3(PKP2):c.457G>A (p.Asp153Asn) rs747856983
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala) rs794729102
NM_001005242.3(PKP2):c.539A>G (p.His180Arg)
NM_001005242.3(PKP2):c.635G>A (p.Arg212His) rs1369618463
NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly) rs1309098966
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_001005242.3(PKP2):c.761A>C (p.Asn254Thr) rs769542968
NM_001005242.3(PKP2):c.7G>T (p.Ala3Ser)
NM_001005242.3(PKP2):c.834G>T (p.Gln278His) rs1956949832
NM_001005242.3(PKP2):c.896G>A (p.Arg299His) rs755425370
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser) rs200069860
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005242.3(PKP2):c.980G>A (p.Gly327Glu) rs759660796

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