ClinVar Miner

List of variants in gene PNKP reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP
GRCh37/hg19 19q13.33(chr19:50364553-50365166)x1
NC_000019.10:g.49865435_49865436del
NM_007254.4(PNKP):c.*15C>T rs1050332
NM_007254.4(PNKP):c.*17C>T rs374836478
NM_007254.4(PNKP):c.-11C>T rs372465811
NM_007254.4(PNKP):c.-13-19C>A rs920231330
NM_007254.4(PNKP):c.-13-20C>T rs369527946
NM_007254.4(PNKP):c.-14+1G>T rs796052854
NM_007254.4(PNKP):c.-21G>A rs893501652
NM_007254.4(PNKP):c.-26G>T rs1057521745
NM_007254.4(PNKP):c.-32G>A rs796052845
NM_007254.4(PNKP):c.-35T>C rs550311179
NM_007254.4(PNKP):c.-3A>G rs796052848
NM_007254.4(PNKP):c.-47C>T rs1487640562
NM_007254.4(PNKP):c.-48T>G rs1057520774
NM_007254.4(PNKP):c.-4C>G rs796052847
NM_007254.4(PNKP):c.-50G>C rs3739166
NM_007254.4(PNKP):c.-7A>C rs369053276
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.1009G>C (p.Glu337Gln) rs780121125
NM_007254.4(PNKP):c.1029+16G>A
NM_007254.4(PNKP):c.1029+1G>A rs959497903
NM_007254.4(PNKP):c.1029+20G>T rs1239545577
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1030-20G>A rs1200668101
NM_007254.4(PNKP):c.1030-5C>T rs374745816
NM_007254.4(PNKP):c.1030-9C>T rs368699840
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809
NM_007254.4(PNKP):c.1062C>T (p.Leu354=) rs142830558
NM_007254.4(PNKP):c.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.1126+17T>C rs1384026505
NM_007254.4(PNKP):c.1126+3_1126+4dup rs750550558
NM_007254.4(PNKP):c.1126+9C>T rs3739202
NM_007254.4(PNKP):c.1127-12C>T
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855
NM_007254.4(PNKP):c.1158C>G (p.Leu386=) rs373766090
NM_007254.4(PNKP):c.1164G>T (p.Ser388=) rs776788871
NM_007254.4(PNKP):c.1170A>G (p.Gly390=) rs1064796440
NM_007254.4(PNKP):c.1188+12C>T rs780736753
NM_007254.4(PNKP):c.1188+1G>A rs1057518102
NM_007254.4(PNKP):c.1188+47C>T
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-10G>A
NM_007254.4(PNKP):c.1189-10del rs3739205
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.1215dup (p.Val406fs) rs1389034284
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.1233A>G (p.Thr411=) rs1057522305
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.1266C>T (p.Asp422=) rs1055603577
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.1281C>T (p.Asp427=) rs770775129
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1287G>C (p.Ala429=) rs1281900821
NM_007254.4(PNKP):c.1287_1298+1dup rs1555810849
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+6del rs587784366
NM_007254.4(PNKP):c.1298+12G>A rs747065246
NM_007254.4(PNKP):c.1298+19C>T rs541129252
NM_007254.4(PNKP):c.1298+20G>A rs765634741
NM_007254.4(PNKP):c.1298+20G>T
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733
NM_007254.4(PNKP):c.1298+5C>T rs1171213214
NM_007254.4(PNKP):c.1298+6G>A rs578207030
NM_007254.4(PNKP):c.1298+8G>C rs1555810842
NM_007254.4(PNKP):c.1299-5C>T rs1057522419
NM_007254.4(PNKP):c.1299-6C>T rs112635688
NM_007254.4(PNKP):c.1299-7C>T rs1555810817
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT rs1064794370
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.1315C>T (p.Arg439Ter) rs539286945
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
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.1329C>T (p.Val443=) rs796052846
NM_007254.4(PNKP):c.1344C>T (p.Phe448=) rs762529581
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
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+19G>T rs1057523595
NM_007254.4(PNKP):c.1386+1G>A rs1057520630
NM_007254.4(PNKP):c.1387-11G>A rs200785744
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
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.1429A>G (p.Met477Val) rs796052856
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866
NM_007254.4(PNKP):c.1448+13A>G rs748882543
NM_007254.4(PNKP):c.1448+7T>C rs775646444
NM_007254.4(PNKP):c.1449-19C>A rs772322533
NM_007254.4(PNKP):c.1449G>C (p.Arg483Ser) rs747689609
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.1495C>T (p.Leu499=) rs587781114
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.4(PNKP):c.151+11C>T rs587781113
NM_007254.4(PNKP):c.151+18T>G rs55756709
NM_007254.4(PNKP):c.151+205A>C
NM_007254.4(PNKP):c.151+245G>A
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873
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.1545C>G (p.Tyr515Ter) rs760131892
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374
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.198+9G>A rs370222304
NM_007254.4(PNKP):c.199-15C>T rs201254691
NM_007254.4(PNKP):c.199-170G>A
NM_007254.4(PNKP):c.199C>T (p.Leu67=) rs1038434528
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.242C>T (p.Pro81Leu) rs753940585
NM_007254.4(PNKP):c.243G>A (p.Pro81=) rs1057520480
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949
NM_007254.4(PNKP):c.24C>T (p.Gly8=) rs1057522863
NM_007254.4(PNKP):c.291T>C (p.Asn97=) rs1555811608
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.357G>A (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.381A>G (p.Gln127=) rs139679798
NM_007254.4(PNKP):c.403C>T (p.Leu135=) rs766739774
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.408G>T (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
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.490C>T (p.Gln164Ter) rs375781731
NM_007254.4(PNKP):c.498+233G>T
NM_007254.4(PNKP):c.498+23A>T rs1290649
NM_007254.4(PNKP):c.498+268G>T
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.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.552C>T (p.Val184=) rs369818814
NM_007254.4(PNKP):c.564C>T (p.Gly188=) rs574408360
NM_007254.4(PNKP):c.579-18G>A rs199541652
NM_007254.4(PNKP):c.579-19C>T rs368764301
NM_007254.4(PNKP):c.579-4G>A rs371834726
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.585G>A (p.Leu195=) rs770100322
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.58C>T (p.Pro20Ser) rs3739168
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706
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.636+12C>T rs768950578
NM_007254.4(PNKP):c.636+7G>A rs3739187
NM_007254.4(PNKP):c.637-13del rs754413273
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.666C>T (p.Ile222=) 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.678G>A (p.Lys226=) rs141969535
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.723G>A (p.Glu241=) rs778970176
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+14G>A rs111647455
NM_007254.4(PNKP):c.744+3dup rs1555811411
NM_007254.4(PNKP):c.744+81G>A
NM_007254.4(PNKP):c.745-99C>A
NM_007254.4(PNKP):c.758C>T (p.Thr253Met) rs538161505
NM_007254.4(PNKP):c.759G>A (p.Thr253=) rs1057522106
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920
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.789G>A (p.Thr263=) rs768661843
NM_007254.4(PNKP):c.816+20C>T rs372038893
NM_007254.4(PNKP):c.816+6T>A rs1313353571
NM_007254.4(PNKP):c.817-169G>T
NM_007254.4(PNKP):c.817-17A>G rs759404435
NM_007254.4(PNKP):c.817-20C>G rs201778535
NM_007254.4(PNKP):c.817-254G>A
NM_007254.4(PNKP):c.817-47C>T rs3739198
NM_007254.4(PNKP):c.817-4G>T rs377241372
NM_007254.4(PNKP):c.817-5del rs767881542
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.834C>T (p.Pro278=) rs372595462
NM_007254.4(PNKP):c.83G>A (p.Gly28Glu) rs771064093
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199
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.906G>A (p.Lys302=) rs1555811171
NM_007254.4(PNKP):c.936+13C>T rs962788282
NM_007254.4(PNKP):c.936+13dup rs3739200
NM_007254.4(PNKP):c.936+6G>A rs751664776
NM_007254.4(PNKP):c.937-10C>T rs376801468
NM_007254.4(PNKP):c.937-11_937-10del rs769234730
NM_007254.4(PNKP):c.937-20T>C rs894694605
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
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.992G>A (p.Trp331Ter) rs772727116
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574

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