ClinVar Miner

List of variants in gene PNKP reported as likely benign

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Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP
NC_000019.10:g.49865435_49865436del rs749292876
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.-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.1002C>T (p.Ala334=) rs748042567
NM_007254.4(PNKP):c.1008C>T (p.Phe336=) rs1474446608
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125
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+20G>T rs1239545577
NM_007254.4(PNKP):c.1029+2T>C rs199919568
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.1074G>A (p.Arg358=) rs771883677
NM_007254.4(PNKP):c.1098G>A (p.Glu366=) 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.1126+17T>C rs1384026505
NM_007254.4(PNKP):c.1127-12C>T rs769293635
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233
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.1182G>C (p.Val394=) rs1416491595
NM_007254.4(PNKP):c.1188+12C>T rs780736753
NM_007254.4(PNKP):c.1188+47C>T rs146492255
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-10G>A rs1458942967
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1212C>T (p.Arg404=)
NM_007254.4(PNKP):c.1233A>G (p.Thr411=) rs1057522305
NM_007254.4(PNKP):c.1236C>T (p.Ala412=) rs1060504641
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964
NM_007254.4(PNKP):c.1266C>T (p.Asp422=) rs1055603577
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.1298+12G>A rs747065246
NM_007254.4(PNKP):c.1298+20G>A rs765634741
NM_007254.4(PNKP):c.1298+20G>T rs765634741
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+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.1299-9C>A rs1055654261
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.130C>A (p.Arg44=) rs374921362
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.1329C>T (p.Val443=) rs796052846
NM_007254.4(PNKP):c.1344C>T (p.Phe448=) rs762529581
NM_007254.4(PNKP):c.1371G>A (p.Ala457=) rs1477817574
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1386+19G>T rs1057523595
NM_007254.4(PNKP):c.1387-11G>A rs200785744
NM_007254.4(PNKP):c.1387-7C>T rs1060504642
NM_007254.4(PNKP):c.1387-8C>T rs541604147
NM_007254.4(PNKP):c.1401G>A (p.Thr467=) rs374547164
NM_007254.4(PNKP):c.1416C>T (p.Ile472=) rs1406190021
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.1482C>T (p.Gly494=) rs60279874
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.4(PNKP):c.1494C>T (p.Ile498=) rs368390840
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.1510C>A (p.Arg504=) rs148669160
NM_007254.4(PNKP):c.1513C>T (p.Leu505=) rs201661864
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873
NM_007254.4(PNKP):c.1539G>A (p.Arg513=) rs776243333
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.1557C>T (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.1565G>A (p.Ter522=) rs778165913
NM_007254.4(PNKP):c.178C>A (p.Arg60=) rs761948305
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.199C>T (p.Leu67=) rs1038434528
NM_007254.4(PNKP):c.243G>A (p.Pro81=) rs1057520480
NM_007254.4(PNKP):c.24C>T (p.Gly8=) rs1057522863
NM_007254.4(PNKP):c.255C>T (p.Gly85=) rs1568662321
NM_007254.4(PNKP):c.291T>C (p.Asn97=) rs1555811608
NM_007254.4(PNKP):c.294C>T (p.Gly98=) rs1197822719
NM_007254.4(PNKP):c.312G>A (p.Leu104=) rs375257269
NM_007254.4(PNKP):c.327C>G (p.Thr109=) rs749579842
NM_007254.4(PNKP):c.357G>A (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.357G>C (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.366C>T (p.Thr122=) rs145274731
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.408G>A (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.408G>C (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.417T>A (p.Arg139=) rs1060504643
NM_007254.4(PNKP):c.480G>C (p.Gly160=) rs1600421459
NM_007254.4(PNKP):c.498+233G>T rs79622873
NM_007254.4(PNKP):c.498+23A>T rs1290649
NM_007254.4(PNKP):c.499-7A>C rs909512959
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.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.579-5C>T rs767753048
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.588C>T (p.Tyr196=) rs745459391
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120
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.663C>T (p.Ser221=) rs1376565938
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535
NM_007254.4(PNKP):c.687C>T (p.Ala229=) rs776236270
NM_007254.4(PNKP):c.723G>A (p.Glu241=) rs778970176
NM_007254.4(PNKP):c.744+14G>A rs111647455
NM_007254.4(PNKP):c.744+81G>A rs150731099
NM_007254.4(PNKP):c.745-99C>A rs3739189
NM_007254.4(PNKP):c.745-9C>T rs1555811381
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.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.789G>A (p.Thr263=) rs768661843
NM_007254.4(PNKP):c.816+6T>A rs1313353571
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 rs149651968
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.81C>T (p.Asp27=) rs1226961947
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.834C>T (p.Pro278=) rs372595462
NM_007254.4(PNKP):c.865+9C>T rs1555811201
NM_007254.4(PNKP):c.885C>T (p.Ala295=) rs763725051
NM_007254.4(PNKP):c.897G>A (p.Pro299=) rs767771095
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+10C>T rs750891370
NM_007254.4(PNKP):c.936+10del rs1028122181
NM_007254.4(PNKP):c.936+13C>T rs962788282
NM_007254.4(PNKP):c.936+6G>A rs751664776
NM_007254.4(PNKP):c.936+8C>T rs763573850
NM_007254.4(PNKP):c.937-10C>G rs376801468
NM_007254.4(PNKP):c.937-10C>T rs376801468
NM_007254.4(PNKP):c.937-20T>C rs894694605
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007254.4(PNKP):c.942C>T (p.Ala314=) rs1268054245
NM_007254.4(PNKP):c.957G>A (p.Leu319=) rs1600417997
NM_007254.4(PNKP):c.969G>A (p.Thr323=) rs1257495491
NM_007254.4(PNKP):c.987C>T (p.Leu329=) rs150644303

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