ClinVar Miner

List of variants in gene PKP2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1170+258G>T rs138264987 0.02022
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.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.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.2167+67C>T rs114561683 0.00414
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.939C>T (p.Ser313=) rs61729381 0.00229
NM_001005242.3(PKP2):c.2168-19T>A rs527736735 0.00203
NM_001005242.3(PKP2):c.2168-49A>G rs188052783 0.00200
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.505A>G (p.Ser169Gly) rs139139859 0.00096
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.1379-2019C>T rs149930872 0.00049
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
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.1504G>A (p.Ala502Thr) rs368740836 0.00016
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.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001005242.3(PKP2):c.996G>A (p.Leu332=) rs144574595 0.00009
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.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001005242.3(PKP2):c.-32A>C rs758069762 0.00004
NM_001005242.3(PKP2):c.12C>T (p.Pro4=) rs397516991 0.00004
NM_001005242.3(PKP2):c.1378+18T>C rs374266697 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 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.2121G>A (p.Ser707=) rs139098675 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.-16C>T rs1214374578 0.00003
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=) rs747191995 0.00003
NM_001005242.3(PKP2):c.-7C>T rs959129403 0.00002
NM_001005242.3(PKP2):c.1171-13G>A rs200137461 0.00002
NM_001005242.3(PKP2):c.1556+7C>T rs752585335 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.558C>T (p.Ala186=) rs184522105 0.00002
NM_001005242.3(PKP2):c.978A>G (p.Ala326=) rs775137004 0.00002
NM_001005242.3(PKP2):c.1035-9T>C rs1057522716 0.00001
NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile) rs770333863 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 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.1674+13A>C rs768698663 0.00001
NM_001005242.3(PKP2):c.2014-19G>A rs1555141646 0.00001
NM_001005242.3(PKP2):c.2014-7A>G rs1555141645 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.720G>A (p.Leu240=) rs777567315 0.00001
NM_001005242.3(PKP2):c.975C>T (p.Ala325=) rs369921166 0.00001
NM_001005242.3(PKP2):c.-15G>T rs886049325
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
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.1379-2354A>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.1624C>T (p.Leu542=) rs397517007
NM_001005242.3(PKP2):c.1674+9A>C rs1212772447
NM_001005242.3(PKP2):c.2028G>A (p.Val676=) rs1397771521
NM_001005242.3(PKP2):c.224-18A>T rs370733920
NM_001005242.3(PKP2):c.2358-18A>G rs937966545
NM_001005242.3(PKP2):c.2358C>T (p.Ala786=) rs1555140707
NM_001005242.3(PKP2):c.2446-9A>T rs1057524088
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.504C>T (p.Tyr168=) rs1057520930
NM_001005242.3(PKP2):c.924C>T (p.Val308=) rs1956947855
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_001005242.3(PKP2):c.978A>T (p.Ala326=) rs775137004

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