ClinVar Miner

List of variants in gene PKP2 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1170+258G>T rs138264987 0.02022
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001005242.3(PKP2):c.1034+136A>G rs147988796 0.01836
NM_001005242.3(PKP2):c.1378+152G>T rs117378017 0.01827
NM_001005242.3(PKP2):c.2168-233G>A rs142067942 0.01709
NM_001005242.3(PKP2):c.1840-298T>A rs144871177 0.01038
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001005242.3(PKP2):c.223+142A>C rs189343703 0.00995
NM_001005242.3(PKP2):c.1556+243G>A rs113980904 0.00948
NM_001005242.3(PKP2):c.1839+84C>G rs114120976 0.00929
NM_001005242.3(PKP2):c.223+235T>A rs73090788 0.00851
NM_001005242.3(PKP2):c.1035-197C>A rs77756570 0.00805
NM_001005242.3(PKP2):c.1840-60G>A rs73090746 0.00795
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001005242.3(PKP2):c.*48dup rs369140281 0.00677
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001005242.3(PKP2):c.1556+233G>A rs146693717 0.00589
NM_001005242.3(PKP2):c.2167+267A>G rs7961838 0.00514
NM_001005242.3(PKP2):c.*202C>T rs77988382 0.00472
NM_001005242.3(PKP2):c.*281A>G rs78540632 0.00463
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483 0.00423
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001005242.3(PKP2):c.2167+67C>T rs114561683 0.00414
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.1556+280A>T rs181067080 0.00336
NM_001005242.3(PKP2):c.223+277A>G rs139320588 0.00334
NM_001005242.3(PKP2):c.2168-241G>A rs191018901 0.00303
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.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381 0.00229
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_001005242.3(PKP2):c.2168-49A>G rs188052783 0.00200
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
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.1379-2019C>T rs149930872 0.00049
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
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.302G>A (p.Arg101His) rs149542398 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.1379-2066C>T rs373399921 0.00014
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
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.486G>A (p.Thr162=) rs189040311 0.00006
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
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.12C>T (p.Pro4=) rs397516991 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.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.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372 0.00004
NM_001005242.3(PKP2):c.963C>T (p.Val321=) rs202207343 0.00004
NM_001005242.3(PKP2):c.1035-11del rs1393167652 0.00003
NM_001005242.3(PKP2):c.1379-2056C>T rs749052785 0.00003
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=) rs747191995 0.00003
NM_001005242.3(PKP2):c.360A>G (p.Glu120=) rs764868621 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.1379-2071G>A rs776244945 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 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.1035-9T>C rs1057522716 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1379-2023C>T rs587781108 0.00001
NM_001005242.3(PKP2):c.1379-5T>C rs189036647 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.2014-7A>G rs1555141645 0.00001
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=) rs587781109 0.00001
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=) rs753226330 0.00001
NM_001005242.3(PKP2):c.681C>T (p.Ser227=) rs762263587 0.00001
NM_001005242.3(PKP2):c.102C>G (p.Ser34=)
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.1263C>T (p.Asn421=) rs2137862862
NM_001005242.3(PKP2):c.1379-1792_1379-1791dup rs556406976
NM_001005242.3(PKP2):c.1379-1792dup rs556406976
NM_001005242.3(PKP2):c.1379-1919G>C rs141138287
NM_001005242.3(PKP2):c.1379-2114G>A rs2137838518
NM_001005242.3(PKP2):c.1379-2354A>T rs112955378
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=) rs879043258
NM_001005242.3(PKP2):c.1556+10C>T rs1057521860
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=) rs760093803
NM_001005242.3(PKP2):c.1674+9A>C rs1212772447
NM_001005242.3(PKP2):c.192C>T (p.Leu64=) rs768376044
NM_001005242.3(PKP2):c.2028G>A (p.Val676=) rs1397771521
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2446-10dup rs397517024
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_001005242.3(PKP2):c.924C>T (p.Val308=) rs1956947855
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860

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