ClinVar Miner

List of variants in gene PNKP studied for not provided

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Gene type:
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Total variants: 202
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HGVS dbSNP
NC_000019.10:g.49865435_49865436del rs749292876
NM_007254.4(PNKP):c.-14+1G>T rs796052854
NM_007254.4(PNKP):c.1002C>T (p.Ala334=) rs748042567
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs) rs1131691883
NM_007254.4(PNKP):c.1020C>T (p.Ala340=) rs745968911
NM_007254.4(PNKP):c.1029+16G>A rs982882766
NM_007254.4(PNKP):c.1029+1G>A rs959497903
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1030-5C>T rs374745816
NM_007254.4(PNKP):c.1043G>C (p.Arg348Pro) rs781551273
NM_007254.4(PNKP):c.1062C>T (p.Leu354=) rs142830558
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.1110A>G (p.Ala370=) rs753408018
NM_007254.4(PNKP):c.111C>A (p.Pro37=) rs781573473
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1126+3_1126+4dup rs750550558
NM_007254.4(PNKP):c.1127-12C>T rs769293635
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855
NM_007254.4(PNKP):c.1170A>G (p.Gly390=) rs1064796440
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025
NM_007254.4(PNKP):c.1182G>C (p.Val394=) rs1416491595
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674
NM_007254.4(PNKP):c.1188+1G>A rs1057518102
NM_007254.4(PNKP):c.1188+47C>T rs146492255
NM_007254.4(PNKP):c.1189-10G>A rs1458942967
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1189-2A>C rs767645983
NM_007254.4(PNKP):c.1189_1237dup (p.Leu413delinsArgHisAlaArgLeuLeuAlaAlaLeuCysAspHisValTer) rs1555810891
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter) rs372404688
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312
NM_007254.4(PNKP):c.1212C>T (p.Arg404=)
NM_007254.4(PNKP):c.1215dup (p.Val406fs) rs1389034284
NM_007254.4(PNKP):c.1225T>C (p.Cys409Arg) rs1338672803
NM_007254.4(PNKP):c.1228_1229GA[1] (p.Glu410fs) rs1064794452
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150
NM_007254.4(PNKP):c.1236C>T (p.Ala412=) rs1060504641
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp) rs748365843
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser) rs754981151
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1287_1298+1dup rs1555810849
NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs) rs796052860
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1293_1298+2dup rs796052861
NM_007254.4(PNKP):c.1295_1298+20dup
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1298+20G>T rs765634741
NM_007254.4(PNKP):c.1298+7T>G rs794727126
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167
NM_007254.4(PNKP):c.130C>A (p.Arg44=) rs374921362
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) rs539286945
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137
NM_007254.4(PNKP):c.1325G>C (p.Gly442Ala) rs1360064159
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1371G>A (p.Ala457=) rs1477817574
NM_007254.4(PNKP):c.1378_1380AAC[1] (p.Asn461del) rs796052863
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+1G>A rs1057520630
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.1397T>C (p.Met466Thr) rs145886749
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666
NM_007254.4(PNKP):c.1416C>T (p.Ile472=) rs1406190021
NM_007254.4(PNKP):c.1429A>G (p.Met477Val) rs796052856
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857
NM_007254.4(PNKP):c.1448+7T>C rs775646444
NM_007254.4(PNKP):c.1449G>C (p.Arg483Ser) rs747689609
NM_007254.4(PNKP):c.1468A>G (p.Thr490Ala) rs727504100
NM_007254.4(PNKP):c.1481G>T (p.Gly494Val) rs1085307661
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu) rs1165689250
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.4(PNKP):c.1500G>A (p.Glu500=) rs1381051164
NM_007254.4(PNKP):c.151+205A>C rs2305922
NM_007254.4(PNKP):c.151+245G>A rs2257103
NM_007254.4(PNKP):c.1510C>A (p.Arg504=) rs148669160
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
NM_007254.4(PNKP):c.1513C>T (p.Leu505=) rs201661864
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958
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.1545C>G (p.Tyr515Ter) rs760131892
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=) rs760131892
NM_007254.4(PNKP):c.1551G>A (p.Gln517=) rs771913446
NM_007254.4(PNKP):c.1554C>T (p.Phe518=) rs541143958
NM_007254.4(PNKP):c.1556C>G (p.Ser519Cys) rs745801055
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128
NM_007254.4(PNKP):c.178C>A (p.Arg60=) rs761948305
NM_007254.4(PNKP):c.178C>G (p.Arg60Gly) rs761948305
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln) rs374743798
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.4(PNKP):c.199-170G>A rs3739177
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600
NM_007254.4(PNKP):c.203G>C (p.Gly68Ala) rs796052864
NM_007254.4(PNKP):c.229C>T (p.Gln77Ter) rs1568662343
NM_007254.4(PNKP):c.235T>G (p.Leu79Val) rs796052849
NM_007254.4(PNKP):c.23del (p.Gly8fs) rs1600423552
NM_007254.4(PNKP):c.242C>T (p.Pro81Leu) rs753940585
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949
NM_007254.4(PNKP):c.265dup (p.Val89fs) rs879255541
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151
NM_007254.4(PNKP):c.294C>T (p.Gly98=) rs1197822719
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu) rs11555414
NM_007254.4(PNKP):c.408G>A (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.417T>A (p.Arg139=) rs1060504643
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652
NM_007254.4(PNKP):c.47C>A (p.Pro16His) rs796052858
NM_007254.4(PNKP):c.480G>C (p.Gly160=) rs1600421459
NM_007254.4(PNKP):c.490C>T (p.Gln164Ter) rs375781731
NM_007254.4(PNKP):c.498+233G>T rs79622873
NM_007254.4(PNKP):c.498+23A>T rs1290649
NM_007254.4(PNKP):c.498+268G>T rs3729641
NM_007254.4(PNKP):c.499-5A>G rs886042466
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975
NM_007254.4(PNKP):c.525G>T (p.Thr175=) rs1431267725
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.579-4G>A rs371834726
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842
NM_007254.4(PNKP):c.588C>T (p.Tyr196=) rs745459391
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.4(PNKP):c.602G>A (p.Arg201His) rs150253619
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839
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.670C>T (p.Arg224Cys) rs761117623
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114
NM_007254.4(PNKP):c.713C>T (p.Ala238Val) rs746166841
NM_007254.4(PNKP):c.718G>A (p.Val240Met) rs1315272571
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser) rs147553148
NM_007254.4(PNKP):c.744+81G>A rs150731099
NM_007254.4(PNKP):c.745-99C>A rs3739189
NM_007254.4(PNKP):c.754G>T (p.Ala252Ser) rs1555811378
NM_007254.4(PNKP):c.758C>T (p.Thr253Met) rs538161505
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249
NM_007254.4(PNKP):c.767G>A (p.Gly256Asp) rs796052852
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.788C>T (p.Thr263Met) rs766704284
NM_007254.4(PNKP):c.817-169G>T rs1290647
NM_007254.4(PNKP):c.817-254G>A rs149651968
NM_007254.4(PNKP):c.817-47C>T rs3739198
NM_007254.4(PNKP):c.817-5C>G rs398124250
NM_007254.4(PNKP):c.822C>T (p.Asn274=) rs780677866
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.838del (p.Ser280fs)
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.853A>G (p.Ile285Val) rs750224965
NM_007254.4(PNKP):c.861G>C (p.Val287=) rs75203375
NM_007254.4(PNKP):c.865+9C>T rs1555811201
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106
NM_007254.4(PNKP):c.884C>T (p.Ala295Val) rs753695701
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405
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.921C>A (p.Ser307=) rs369985921
NM_007254.4(PNKP):c.931C>T (p.Arg311Cys) rs755967508
NM_007254.4(PNKP):c.936+10C>T rs750891370
NM_007254.4(PNKP):c.936+6G>A rs751664776
NM_007254.4(PNKP):c.937-10C>G rs376801468
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007254.4(PNKP):c.957G>A (p.Leu319=) rs1600417997
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009
NM_007254.4(PNKP):c.987C>T (p.Leu329=) rs150644303
NM_007254.4(PNKP):c.992G>A (p.Trp331Ter) rs772727116
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574

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