ClinVar Miner

List of variants in gene PNKP reported by Invitae

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val)
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys)
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg)
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg)
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys)
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu)
NM_007254.4(PNKP):c.1098G>A (p.Glu366=) rs755340060
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser)
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1125G>T (p.Gly375=)
NM_007254.4(PNKP):c.1126+9C>T rs3739202
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079
NM_007254.4(PNKP):c.1165G>A (p.Ala389Thr)
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs)
NM_007254.4(PNKP):c.1211G>A (p.Arg404His)
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro)
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys) rs774130130
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150
NM_007254.4(PNKP):c.1235C>T (p.Ala412Val) rs1060502500
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.1270_1281dup (p.Thr424_Asp427dup)
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060
NM_007254.4(PNKP):c.1281C>T (p.Asp427=) rs770775129
NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu) rs1568659063
NM_007254.4(PNKP):c.1286C>T (p.Ala429Val) rs769707108
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1288_1298+6dup rs1555810844
NM_007254.4(PNKP):c.1292G>A (p.Arg431His)
NM_007254.4(PNKP):c.1298+6G>A rs578207030
NM_007254.4(PNKP):c.1299-6C>T rs112635688
NM_007254.4(PNKP):c.1299-9C>A rs1055654261
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) rs539286945
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1321G>A (p.Ala441Thr) rs1351594110
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.1358C>A (p.Thr453Asn) rs1455514180
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val)
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+49_1387-33del rs752902474
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1387-7C>T rs1060504642
NM_007254.4(PNKP):c.1387-8C>T rs541604147
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749
NM_007254.4(PNKP):c.1401G>A (p.Thr467=) rs374547164
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.1424C>T (p.Ser475Leu)
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206
NM_007254.4(PNKP):c.143del (p.Arg48fs) rs766530579
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866
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.1494C>T (p.Ile498=) rs368390840
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln) rs774739756
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp)
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
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.1557C>T (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys)
NM_007254.4(PNKP):c.1565G>A (p.Ter522=) rs778165913
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp)
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.199-8_199-5del
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile)
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile)
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706
NM_007254.4(PNKP):c.313C>T (p.Arg105Cys)
NM_007254.4(PNKP):c.327C>G (p.Thr109=) rs749579842
NM_007254.4(PNKP):c.329G>A (p.Arg110His) rs867937617
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg) rs567905136
NM_007254.4(PNKP):c.357G>C (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.408G>C (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.430A>G (p.Asn144Asp)
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu)
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.538C>T (p.Arg180Cys)
NM_007254.4(PNKP):c.539G>A (p.Arg180His) rs779492301
NM_007254.4(PNKP):c.579-5C>T rs767753048
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu)
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>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859
NM_007254.4(PNKP):c.611G>A (p.Arg204Gln)
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala)
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys)
NM_007254.4(PNKP):c.636+7G>A rs3739187
NM_007254.4(PNKP):c.63del (p.Ile22fs)
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.678G>A (p.Lys226=) rs141969535
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.745-9C>T rs1555811381
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys)
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del)
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.830C>T (p.Thr277Met) rs1453288814
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965
NM_007254.4(PNKP):c.865+9C>T rs1555811201
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.885C>T (p.Ala295=) rs763725051
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn) rs1555811171
NM_007254.4(PNKP):c.936+10del rs1028122181
NM_007254.4(PNKP):c.936+8C>T rs763573850
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.961T>C (p.Phe321Leu) rs1210892846
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574

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