ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.2013+45G>A rs10772008 0.73962
NM_001005242.3(PKP2):c.*1431G>A rs1046150 0.62602
NM_001005242.3(PKP2):c.2358-104C>G rs6488092 0.62116
NM_001005242.3(PKP2):c.*1196G>A rs1046138 0.61624
NM_001005242.3(PKP2):c.2358-170C>T rs7957460 0.61134
NM_001005242.3(PKP2):c.*251C>G rs12612 0.61058
NM_001005242.3(PKP2):c.2446-69G>A rs7956824 0.60897
NM_001005242.3(PKP2):c.2014-157G>T rs7975824 0.60853
NM_001005242.3(PKP2):c.*812C>T rs9394 0.50975
NM_004572.3(PKP2):c.-264G>A rs76078632 0.49327
NM_001005242.3(PKP2):c.2357+73del rs71447623 0.38897
NM_001005242.3(PKP2):c.2168-266A>T rs7138787 0.21041
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.2168-195A>G rs7138758 0.19821
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_001005242.3(PKP2):c.2014-152C>T rs12299276 0.19122
NM_001005242.3(PKP2):c.2014-185G>C rs12299188 0.19109
NM_001005242.3(PKP2):c.1379-1899A>G rs112877700 0.15423
NM_001005242.3(PKP2):c.1556+140T>C rs73303628 0.13249
NM_001005242.3(PKP2):c.1840-148A>G rs9919823 0.11487
NM_001005242.3(PKP2):c.1839+235T>C rs59531342 0.11464
NM_001005242.3(PKP2):c.1675-195T>C rs1869652 0.11453
NM_001005242.3(PKP2):c.1674+331G>A rs111744961 0.06763
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_001005242.3(PKP2):c.223+286G>A rs78143613 0.05641
NM_001005242.3(PKP2):c.2013+72A>G rs7967264 0.05258
NM_001005242.3(PKP2):c.*1271G>C rs12314796 0.05196
NM_001005242.3(PKP2):c.*1563G>T rs1046154 0.05190
NM_001005242.3(PKP2):c.2446-60C>A rs113493546 0.04186
NM_001005242.3(PKP2):c.1035-334G>A rs150759210 0.04094
NM_001005242.3(PKP2):c.-22C>G rs373925978 0.02916
NM_001005242.3(PKP2):c.1171-146A>G rs73303641 0.02691
NM_001005242.3(PKP2):c.1378+177T>A rs73303639 0.02030
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
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.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.2168-21G>T rs201732222 0.00291
NM_001005242.3(PKP2):c.819G>A (p.Pro273=) rs3748279 0.00266
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.939C>T (p.Ser313=) rs61729381 0.00229
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=) rs142362933 0.00034
NM_001005242.3(PKP2):c.45C>T (p.Thr15=) rs759214983 0.00010
NM_001005242.3(PKP2):c.1137C>T (p.His379=) rs754927123 0.00005
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.213C>T (p.Ser71=) rs1173618581 0.00004
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.2358-6T>C rs761613652 0.00001
NC_000012.12:g.32896970GGCGGG[2] rs71068341
NM_001005242.3(PKP2):c.*49_*50insA rs2137696845
NM_001005242.3(PKP2):c.*944C>A rs6488090
NM_001005242.3(PKP2):c.1378+200del rs796225848
NM_001005242.3(PKP2):c.1379-127dup rs143525894
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2167+183C>G rs73301724
NM_001005242.3(PKP2):c.2167+213_2167+214dup rs11459735
NM_001005242.3(PKP2):c.2167+213dup rs11459735
NM_001005242.3(PKP2):c.2168-11del rs746936605
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2357+12_2357+13insC rs1555141019
NM_001005242.3(PKP2):c.2357+13del rs2137707621
NM_001005242.3(PKP2):c.2357+72G>A rs61927769
NM_001005242.3(PKP2):c.2358-56C>A rs6488091

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