ClinVar Miner

List of variants in gene PNKP reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734 0.00037
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706 0.00033
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842 0.00033
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876 0.00025
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00016
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281 0.00015
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln) rs374743798 0.00015
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg) rs949517384 0.00014
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600 0.00013
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894 0.00013
NM_007254.4(PNKP):c.579-4G>A rs371834726 0.00011
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00010
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574 0.00010
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866 0.00007
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674 0.00006
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749 0.00006
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883 0.00006
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg) rs567905136 0.00006
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106 0.00006
NM_007254.4(PNKP):c.1387-48_1387-32del rs537912514 0.00005
NM_007254.4(PNKP):c.782C>T (p.Pro261Leu) rs755468325 0.00005
NM_007254.4(PNKP):c.861G>C (p.Val287=) rs75203375 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137 0.00004
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp) rs748365843 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167 0.00003
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu) rs1165689250 0.00003
NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter) rs778043139 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu) rs11555414 0.00003
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser) rs147553148 0.00003
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009 0.00003
NM_007254.4(PNKP):c.1030-5C>T rs374745816 0.00002
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser) rs760583725 0.00002
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060 0.00002
NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln) rs745651405 0.00002
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949 0.00002
NM_007254.4(PNKP):c.267G>A (p.Val89=) rs531640505 0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114 0.00002
NM_007254.4(PNKP):c.844G>A (p.Gly282Arg) rs751489111 0.00002
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855 0.00001
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312 0.00001
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150 0.00001
NM_007254.4(PNKP):c.1252C>T (p.Arg418Trp) rs777641575 0.00001
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098 0.00001
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser) rs754981151 0.00001
NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr) rs1568659088 0.00001
NM_007254.4(PNKP):c.1325G>C (p.Gly442Ala) rs1360064159 0.00001
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp) rs778893834 0.00001
NM_007254.4(PNKP):c.1429A>G (p.Met477Val) rs796052856 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857 0.00001
NM_007254.4(PNKP):c.1468A>G (p.Thr490Ala) rs727504100 0.00001
NM_007254.4(PNKP):c.178C>G (p.Arg60Gly) rs761948305 0.00001
NM_007254.4(PNKP):c.242C>T (p.Pro81Leu) rs753940585 0.00001
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007254.4(PNKP):c.473C>T (p.Ala158Val) rs372615308 0.00001
NM_007254.4(PNKP):c.602G>A (p.Arg201His) rs150253619 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007254.4(PNKP):c.634A>G (p.Lys212Glu) rs762187891 0.00001
NM_007254.4(PNKP):c.713C>T (p.Ala238Val) rs746166841 0.00001
NM_007254.4(PNKP):c.718G>A (p.Val240Met) rs1315272571 0.00001
NM_007254.4(PNKP):c.758C>T (p.Thr253Met) rs538161505 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249 0.00001
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768 0.00001
NM_007254.4(PNKP):c.788C>T (p.Thr263Met) rs766704284 0.00001
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965 0.00001
NM_007254.4(PNKP):c.868G>A (p.Ala290Thr) rs1485940017 0.00001
NM_007254.4(PNKP):c.921C>A (p.Ser307=) rs369985921 0.00001
NM_007254.4(PNKP):c.940G>A (p.Ala314Thr) rs1381404753 0.00001
NM_007254.4(PNKP):c.-14+1G>T rs796052854
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.1019C>A (p.Ala340Asp)
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1043G>C (p.Arg348Pro) rs781551273
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.109C>A (p.Pro37Thr) rs536541839
NM_007254.4(PNKP):c.1123G>C (p.Gly375Arg)
NM_007254.4(PNKP):c.1126+3_1126+6dup
NM_007254.4(PNKP):c.1126+5G>C rs1385764453
NM_007254.4(PNKP):c.1165G>T (p.Ala389Ser) rs575803996
NM_007254.4(PNKP):c.1168G>A (p.Gly390Arg) rs761335711
NM_007254.4(PNKP):c.1170A>G (p.Gly390=) rs1064796440
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1217T>A (p.Val406Glu) rs141938129
NM_007254.4(PNKP):c.123T>A (p.Val41=) rs2122344769
NM_007254.4(PNKP):c.1295_1298+20dup rs2074766354
NM_007254.4(PNKP):c.1298+7T>G rs794727126
NM_007254.4(PNKP):c.130C>T (p.Arg44Trp) rs374921362
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_007254.4(PNKP):c.1365G>C (p.Glu455Asp) rs929075083
NM_007254.4(PNKP):c.1376A>C (p.His459Pro)
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1387-39del rs2122317908
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer) rs1443873131
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
NM_007254.4(PNKP):c.1449G>C (p.Arg483Ser) rs747689609
NM_007254.4(PNKP):c.1481G>A (p.Gly494Asp)
NM_007254.4(PNKP):c.1481G>T (p.Gly494Val) rs1085307661
NM_007254.4(PNKP):c.149A>T (p.Gln50Leu)
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp) rs148669160
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
NM_007254.4(PNKP):c.1524G>C (p.Glu508Asp) rs752776104
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007254.4(PNKP):c.1556C>G (p.Ser519Cys) rs745801055
NM_007254.4(PNKP):c.203G>C (p.Gly68Ala) rs796052864
NM_007254.4(PNKP):c.221C>A (p.Thr74Asn) rs2122339313
NM_007254.4(PNKP):c.235T>G (p.Leu79Val) rs796052849
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.325A>T (p.Thr109Ser) rs979192418
NM_007254.4(PNKP):c.352A>T (p.Thr118Ser) rs1414544372
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.419T>C (p.Met140Thr) rs1174754892
NM_007254.4(PNKP):c.41G>C (p.Ser14Thr) rs749769775
NM_007254.4(PNKP):c.421C>T (p.Arg141Trp) rs755037999
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg) rs751327913
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp) rs551774481
NM_007254.4(PNKP):c.472G>A (p.Ala158Thr) rs767190474
NM_007254.4(PNKP):c.47C>A (p.Pro16His) rs796052858
NM_007254.4(PNKP):c.499-5A>G rs886042466
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys) rs3739185
NM_007254.4(PNKP):c.545G>A (p.Gly182Glu)
NM_007254.4(PNKP):c.578G>A (p.Arg193Lys) rs1056754589
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr) rs201968000
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.640G>C (p.Val214Leu)
NM_007254.4(PNKP):c.662G>A (p.Ser221Asn)
NM_007254.4(PNKP):c.666C>G (p.Ile222Met) rs587784369
NM_007254.4(PNKP):c.668G>T (p.Gly223Val) rs796052851
NM_007254.4(PNKP):c.68T>G (p.Phe23Cys) rs2122345011
NM_007254.4(PNKP):c.737C>A (p.Pro246His)
NM_007254.4(PNKP):c.754G>T (p.Ala252Ser) rs1555811378
NM_007254.4(PNKP):c.767G>A (p.Gly256Asp) rs796052852
NM_007254.4(PNKP):c.773A>G (p.Tyr258Cys)
NM_007254.4(PNKP):c.787A>T (p.Thr263Ser)
NM_007254.4(PNKP):c.816G>T (p.Gln272His)
NM_007254.4(PNKP):c.817-5C>G rs398124250
NM_007254.4(PNKP):c.826G>A (p.Gly276Ser) rs746254179
NM_007254.4(PNKP):c.83G>A (p.Gly28Glu) rs771064093
NM_007254.4(PNKP):c.845G>A (p.Gly282Glu) rs398124251
NM_007254.4(PNKP):c.865+9C>T rs1555811201
NM_007254.4(PNKP):c.884C>T (p.Ala295Val) rs753695701
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe) rs1555811168
NM_007254.4(PNKP):c.920_922del (p.Ser307del) rs886042225
NM_007254.4(PNKP):c.931C>T (p.Arg311Cys) rs755967508
NM_007254.4(PNKP):c.932G>C (p.Arg311Pro) rs372435922
NM_007254.4(PNKP):c.937-11_937-10del rs769234730
Single allele

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