ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
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.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.2168-19T>A rs527736735 0.00203
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.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.1379-2019C>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.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.1842A>G (p.Gln614=) rs138901574 0.00013
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995 0.00012
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.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.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser) rs750119363 0.00006
NM_001005242.3(PKP2):c.900G>A (p.Thr300=) rs140235564 0.00006
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.-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.1608C>T (p.Asp536=) rs397517006 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.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.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372 0.00004
NM_001005242.3(PKP2):c.789G>A (p.Thr263=) rs760432217 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001005242.3(PKP2):c.-16C>T rs1214374578 0.00003
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=) rs397516984 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001005242.3(PKP2):c.-7C>T rs959129403 0.00002
NM_001005242.3(PKP2):c.1556+7C>T rs752585335 0.00002
NM_001005242.3(PKP2):c.1674+15A>C rs749247141 0.00002
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=) rs760434776 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 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.2483C>T (p.Thr828Ile) rs370599966 0.00002
NM_001005242.3(PKP2):c.558C>T (p.Ala186=) rs184522105 0.00002
NM_001005242.3(PKP2):c.687C>T (p.Thr229=) rs1209406571 0.00002
NM_001005242.3(PKP2):c.978A>G (p.Ala326=) rs775137004 0.00002
NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile) rs770333863 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.1557-9T>C rs778969163 0.00001
NM_001005242.3(PKP2):c.1674+13A>C rs768698663 0.00001
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=) rs773662874 0.00001
NM_001005242.3(PKP2):c.2014-19G>A rs1555141646 0.00001
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=) rs753226330 0.00001
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027 0.00001
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747 0.00001
NM_001005242.3(PKP2):c.720G>A (p.Leu240=) rs777567315 0.00001
NM_001005242.3(PKP2):c.909A>G (p.Glu303=) rs376001513 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.1245G>A (p.Val415=) rs1555145513
NM_001005242.3(PKP2):c.1287C>T (p.Asn429=) rs727505239
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg) rs397516998
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.1624C>T (p.Leu542=) rs397517007
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2168-21_2168-20del rs200266270
NM_001005242.3(PKP2):c.224-18A>T rs370733920
NM_001005242.3(PKP2):c.2268C>T (p.Asn756=) rs876657564
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
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.504C>T (p.Tyr168=) rs1057520930
NM_001005242.3(PKP2):c.567A>G (p.Leu189=) rs1555148149
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_001005242.3(PKP2):c.978A>T (p.Ala326=) rs775137004

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