ClinVar Miner

List of variants in gene PKP2 reported as likely benign by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
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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.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
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.1171-10T>C rs200122872 0.00073
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.184C>A (p.Gln62Lys) rs199601548 0.00041
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.983G>C (p.Gly328Ala) rs144651139 0.00026
NM_001005242.3(PKP2):c.198G>A (p.Arg66=) rs144106848 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
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.1379-2066C>T rs373399921 0.00014
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=) rs138901574 0.00013
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995 0.00012
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.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.927C>T (p.Ala309=) rs200152448 0.00007
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr) rs201487421 0.00006
NM_001005242.3(PKP2):c.486G>A (p.Thr162=) rs189040311 0.00006
NM_001005242.3(PKP2):c.900G>A (p.Thr300=) rs140235564 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.1372A>G (p.Ile458Val) rs199571473 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.899C>A (p.Thr300Lys) rs553098424 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.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.1608C>T (p.Asp536=) rs397517006 0.00004
NM_001005242.3(PKP2):c.1889T>C (p.Val630Ala) rs751965920 0.00004
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=) rs727505293 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.468G>A (p.Pro156=) rs756166702 0.00004
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372 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.1379-2056C>T rs749052785 0.00003
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg) rs533659697 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.293T>C (p.Val98Ala) rs775434969 0.00003
NM_001005242.3(PKP2):c.360A>G (p.Glu120=) rs764868621 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.1171-13G>A rs200137461 0.00002
NM_001005242.3(PKP2):c.1206G>A (p.Gln402=) rs773905605 0.00002
NM_001005242.3(PKP2):c.1308A>G (p.Leu436=) rs1439169005 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.1557-14G>T rs748072057 0.00002
NM_001005242.3(PKP2):c.1840-7T>C rs1362643840 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.2072G>A (p.Arg691Gln) rs547215531 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.582T>C (p.Tyr194=) rs532048791 0.00002
NM_001005242.3(PKP2):c.600G>A (p.Val200=) rs781305034 0.00002
NM_001005242.3(PKP2):c.804C>T (p.Val268=) rs781271804 0.00002
NM_001005242.3(PKP2):c.978A>G (p.Ala326=) rs775137004 0.00002
NM_001005242.3(PKP2):c.*5A>G rs1398323423 0.00001
NM_001005242.3(PKP2):c.-10C>T rs1450807689 0.00001
NM_001005242.3(PKP2):c.-14C>T rs750694426 0.00001
NM_001005242.3(PKP2):c.1035-9T>C rs1057522716 0.00001
NM_001005242.3(PKP2):c.1086A>G (p.Ala362=) rs376167178 0.00001
NM_001005242.3(PKP2):c.1104C>T (p.Ser368=) rs892666132 0.00001
NM_001005242.3(PKP2):c.1167G>A (p.Lys389=) rs751778207 0.00001
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.1326G>A (p.Leu442=) rs377076035 0.00001
NM_001005242.3(PKP2):c.1379-2023C>T rs587781108 0.00001
NM_001005242.3(PKP2):c.1379-2044C>T rs1420856333 0.00001
NM_001005242.3(PKP2):c.1379-2111C>T rs1172703594 0.00001
NM_001005242.3(PKP2):c.1379-2112A>G rs367657856 0.00001
NM_001005242.3(PKP2):c.1379-5T>C rs189036647 0.00001
NM_001005242.3(PKP2):c.1446G>A (p.Thr482=) rs370753286 0.00001
NM_001005242.3(PKP2):c.1476T>C (p.Ser492=) rs751082209 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.1557-9T>C rs778969163 0.00001
NM_001005242.3(PKP2):c.165G>T (p.Arg55=) rs1472609900 0.00001
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=) rs773662874 0.00001
NM_001005242.3(PKP2):c.1840-13T>C rs533952272 0.00001
NM_001005242.3(PKP2):c.192C>A (p.Leu64=) rs768376044 0.00001
NM_001005242.3(PKP2):c.1932C>T (p.Ser644=) rs763042549 0.00001
NM_001005242.3(PKP2):c.2014-7A>G rs1555141645 0.00001
NM_001005242.3(PKP2):c.2046G>A (p.Gln682=) rs772622598 0.00001
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=) rs587781109 0.00001
NM_001005242.3(PKP2):c.212C>T (p.Ser71Phe) rs796597346 0.00001
NM_001005242.3(PKP2):c.2168-5T>C rs1227875716 0.00001
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val) rs556563706 0.00001
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=) rs753226330 0.00001
NM_001005242.3(PKP2):c.224-4G>A rs1186431446 0.00001
NM_001005242.3(PKP2):c.224-9T>C rs1238184418 0.00001
NM_001005242.3(PKP2):c.2391C>T (p.Ser797=) rs772225819 0.00001
NM_001005242.3(PKP2):c.2409G>A (p.Leu803=) rs374689137 0.00001
NM_001005242.3(PKP2):c.2446-9A>G rs1057524088 0.00001
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=) rs777477467 0.00001
NM_001005242.3(PKP2):c.29A>G (p.Tyr10Cys) rs1181973282 0.00001
NM_001005242.3(PKP2):c.405C>T (p.Ser135=) rs775423741 0.00001
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027 0.00001
NM_001005242.3(PKP2):c.498C>T (p.Tyr166=) rs772439804 0.00001
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747 0.00001
NM_001005242.3(PKP2):c.681C>T (p.Ser227=) rs762263587 0.00001
NM_001005242.3(PKP2):c.720G>A (p.Leu240=) rs777567315 0.00001
NM_001005242.3(PKP2):c.726G>A (p.Thr242=) rs866886453 0.00001
NM_001005242.3(PKP2):c.741G>C (p.Gly247=) rs762366326 0.00001
NM_001005242.3(PKP2):c.837C>T (p.Pro279=) rs572938229 0.00001
NM_001005242.3(PKP2):c.909A>G (p.Glu303=) rs376001513 0.00001
NM_001005242.3(PKP2):c.921T>C (p.Ser307=) rs941328238 0.00001
NM_001005242.3(PKP2):c.925G>A (p.Ala309Thr) rs761677945 0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala) rs756604557 0.00001
NM_001005242.3(PKP2):c.994C>T (p.Leu332=) rs1956945387 0.00001
NM_001005242.3(PKP2):c.99C>T (p.Pro33=) rs778749586 0.00001
NM_001005242.3(PKP2):c.-11C>T
NM_001005242.3(PKP2):c.1029G>A (p.Gln343=)
NM_001005242.3(PKP2):c.1035G>A (p.Gly345=) rs905404609
NM_001005242.3(PKP2):c.1044C>T (p.Asp348=) rs1956875468
NM_001005242.3(PKP2):c.1101A>G (p.Pro367=) rs776927054
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1171-3C>T
NM_001005242.3(PKP2):c.1212A>G (p.Leu404=) rs1592750669
NM_001005242.3(PKP2):c.1233T>G (p.Val411=) rs2137863106
NM_001005242.3(PKP2):c.1251G>T (p.Gly417=) rs567854722
NM_001005242.3(PKP2):c.1263C>T (p.Asn421=) rs2137862862
NM_001005242.3(PKP2):c.1269A>G (p.Val423=) rs2137862829
NM_001005242.3(PKP2):c.1379-15T>C
NM_001005242.3(PKP2):c.1379-2008G>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.1379-2119C>A rs371719724
NM_001005242.3(PKP2):c.1410A>G (p.Lys470=)
NM_001005242.3(PKP2):c.1447C>T (p.Leu483=) rs2137830616
NM_001005242.3(PKP2):c.1479G>A (p.Gly493=) rs2137830360
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=) rs879043258
NM_001005242.3(PKP2):c.1497C>T (p.Tyr499=) rs765139046
NM_001005242.3(PKP2):c.150A>G (p.Thr50=)
NM_001005242.3(PKP2):c.1548A>C (p.Gly516=) rs2137829842
NM_001005242.3(PKP2):c.1593G>A (p.Ala531=) rs760093803
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=) rs760093803
NM_001005242.3(PKP2):c.15C>G (p.Gly5=) rs1390632513
NM_001005242.3(PKP2):c.15C>T (p.Gly5=) rs1390632513
NM_001005242.3(PKP2):c.1614C>T (p.Leu538=) rs1956409610
NM_001005242.3(PKP2):c.1620C>T (p.Asp540=) rs1956409471
NM_001005242.3(PKP2):c.1638C>T (p.Val546=) rs2137783220
NM_001005242.3(PKP2):c.1675-3C>T rs1592737932
NM_001005242.3(PKP2):c.1737A>G (p.Pro579=) rs766498974
NM_001005242.3(PKP2):c.1758C>T (p.Ile586=)
NM_001005242.3(PKP2):c.1779C>A (p.Ile593=) rs2137777449
NM_001005242.3(PKP2):c.1839+6T>C rs985611212
NM_001005242.3(PKP2):c.1848G>A (p.Gln616=) rs759353036
NM_001005242.3(PKP2):c.1851C>T (p.Asp617=) rs752732048
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met) rs770909247
NM_001005242.3(PKP2):c.1869A>G (p.Glu623=) rs749536693
NM_001005242.3(PKP2):c.1872G>A (p.Lys624=) rs1395644069
NM_001005242.3(PKP2):c.1953C>T (p.Arg651=)
NM_001005242.3(PKP2):c.1998G>C (p.Thr666=) rs371089832
NM_001005242.3(PKP2):c.1998G>T (p.Thr666=) rs371089832
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=) rs1956373944
NM_001005242.3(PKP2):c.2061G>A (p.Leu687=) rs1488094311
NM_001005242.3(PKP2):c.2067C>T (p.His689=) rs2137725631
NM_001005242.3(PKP2):c.2097A>G (p.Pro699=)
NM_001005242.3(PKP2):c.2157G>A (p.Gln719=)
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001005242.3(PKP2):c.2178T>C (p.Thr726=) rs2137708905
NM_001005242.3(PKP2):c.2190G>A (p.Leu730=) rs886049320
NM_001005242.3(PKP2):c.224-7A>G rs1956962618
NM_001005242.3(PKP2):c.2263T>C (p.Leu755=)
NM_001005242.3(PKP2):c.2265G>A (p.Leu755=) rs267603441
NM_001005242.3(PKP2):c.2280A>G (p.Gln760=)
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2338G>A (p.Ala780Thr) rs1956119423
NM_001005242.3(PKP2):c.234C>T (p.His78=) rs1591829350
NM_001005242.3(PKP2):c.2356G>A (p.Ala786Thr) rs768463319
NM_001005242.3(PKP2):c.2358-15T>C
NM_001005242.3(PKP2):c.2367C>T (p.Ser789=) rs1330430218
NM_001005242.3(PKP2):c.2376A>G (p.Ala792=) rs2137698243
NM_001005242.3(PKP2):c.2388T>C (p.Ala796=) rs1956081645
NM_001005242.3(PKP2):c.2398C>T (p.Leu800=) rs2137698131
NM_001005242.3(PKP2):c.2446-10dup rs397517024
NM_001005242.3(PKP2):c.2446-4A>G
NM_001005242.3(PKP2):c.2446-9A>T rs1057524088
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.255G>A (p.Glu85=)
NM_001005242.3(PKP2):c.337-4G>A rs751175344
NM_001005242.3(PKP2):c.390C>T (p.Tyr130=) rs763303290
NM_001005242.3(PKP2):c.411A>G (p.Glu137=) rs1591829029
NM_001005242.3(PKP2):c.420C>T (p.Ser140=) rs2389115
NM_001005242.3(PKP2):c.504C>T (p.Tyr168=) rs1057520930
NM_001005242.3(PKP2):c.51G>C (p.Leu17=) rs1251253044
NM_001005242.3(PKP2):c.558C>A (p.Ala186=)
NM_001005242.3(PKP2):c.663C>T (p.Tyr221=) rs767987619
NM_001005242.3(PKP2):c.717C>T (p.Ala239=) rs143777637
NM_001005242.3(PKP2):c.749G>A (p.Arg250His) rs369332786
NM_001005242.3(PKP2):c.771G>A (p.Glu257=) rs1060504159
NM_001005242.3(PKP2):c.819G>T (p.Pro273=) rs3748279
NM_001005242.3(PKP2):c.81C>T (p.Ser27=) rs1384251523
NM_001005242.3(PKP2):c.901C>T (p.Leu301=) rs1565599048
NM_001005242.3(PKP2):c.912T>C (p.Ala304=) rs1591828546
NM_001005242.3(PKP2):c.924C>T (p.Val308=) rs1956947855
NM_001005242.3(PKP2):c.93G>A (p.Ala31=) rs1957128135
NM_001005242.3(PKP2):c.954C>T (p.His318=)
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_001005242.3(PKP2):c.971C>T (p.Ala324Val) rs529523595
NM_001005242.3(PKP2):c.975C>A (p.Ala325=) rs369921166

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