ClinVar Miner

List of variants in gene PNKP reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP
NC_000019.10:g.(?_49861228)_(49861901_?)del
NC_000019.10:g.(?_49861228)_(49867224_?)dup
NM_007254.4(PNKP):c.1001C>T (p.Ala334Val)
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val) rs747297456
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125
NM_007254.4(PNKP):c.1029+3G>A
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys) rs530663093
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg) rs750098786
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg) rs949517384
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys) rs1600417301
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu) rs756589726
NM_007254.4(PNKP):c.107G>T (p.Gly36Val)
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn)
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.109C>T (p.Pro37Ser)
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303
NM_007254.4(PNKP):c.1113G>A (p.Val371=)
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser) rs760583725
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1125G>T (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079
NM_007254.4(PNKP):c.1165G>A (p.Ala389Thr) rs575803996
NM_007254.4(PNKP):c.1165G>T (p.Ala389Ser)
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312
NM_007254.4(PNKP):c.1211G>A (p.Arg404His) rs549069697
NM_007254.4(PNKP):c.1217T>G (p.Val406Gly)
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro) rs199652836
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys) rs774130130
NM_007254.4(PNKP):c.1226G>T (p.Cys409Phe)
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.1247G>A (p.Gly416Glu)
NM_007254.4(PNKP):c.124A>G (p.Thr42Ala)
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098
NM_007254.4(PNKP):c.1258G>A (p.Ala420Thr)
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser) rs754981151
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup) rs1258095629
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060
NM_007254.4(PNKP):c.1282G>T (p.Ala428Ser)
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.1288_1298+6dup rs1555810844
NM_007254.4(PNKP):c.1291_1298+5dup
NM_007254.4(PNKP):c.1292G>A (p.Arg431His) rs950502049
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733
NM_007254.4(PNKP):c.1298+6G>A rs578207030
NM_007254.4(PNKP):c.1303_1305del (p.Val435del)
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167
NM_007254.4(PNKP):c.1309T>C (p.Cys437Arg)
NM_007254.4(PNKP):c.1316_1317delinsTT (p.Arg439Leu)
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.1324G>A (p.Gly442Ser) rs372459137
NM_007254.4(PNKP):c.1330C>T (p.Pro444Ser)
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) rs200611702
NM_007254.4(PNKP):c.1373G>A (p.Arg458His)
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>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749
NM_007254.4(PNKP):c.1400C>A (p.Thr467Lys)
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) rs1600414629
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866
NM_007254.4(PNKP):c.1443C>G (p.Gly481=)
NM_007254.4(PNKP):c.1465C>T (p.Pro489Ser)
NM_007254.4(PNKP):c.1480G>T (p.Gly494Cys)
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln) rs774739756
NM_007254.4(PNKP):c.14A>G (p.Glu5Gly)
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.1515A>G (p.Leu505=) rs369748873
NM_007254.4(PNKP):c.152-8A>G
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys) rs770823063
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128
NM_007254.4(PNKP):c.1561G>A (p.Gly521Ser)
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp) 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.199-7T>A
NM_007254.4(PNKP):c.199-8_199-5del rs751037387
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600
NM_007254.4(PNKP):c.200T>G (p.Leu67Arg)
NM_007254.4(PNKP):c.212C>T (p.Pro71Leu)
NM_007254.4(PNKP):c.224G>T (p.Gly75Val)
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile) rs1600421787
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949
NM_007254.4(PNKP):c.264G>T (p.Gly88=)
NM_007254.4(PNKP):c.267G>A (p.Val89=)
NM_007254.4(PNKP):c.26_27delinsTT (p.Arg9Leu)
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile) rs780440711
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.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.313C>T (p.Arg105Cys) rs1016887861
NM_007254.4(PNKP):c.314G>A (p.Arg105His)
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.33G>T (p.Trp11Cys)
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.407C>T (p.Pro136Leu) rs11555414
NM_007254.4(PNKP):c.407_421dup (p.Pro136_Met140dup)
NM_007254.4(PNKP):c.41G>A (p.Ser14Asn)
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp) rs551774481
NM_007254.4(PNKP):c.432C>A (p.Asn144Lys)
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138
NM_007254.4(PNKP):c.499-4C>G
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu) rs929865929
NM_007254.4(PNKP):c.520G>A (p.Gly174Arg)
NM_007254.4(PNKP):c.524C>T (p.Thr175Met)
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys) rs3739185
NM_007254.4(PNKP):c.539G>A (p.Arg180His) rs779492301
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu) rs1600420665
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842
NM_007254.4(PNKP):c.587A>T (p.Tyr196Phe)
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.611G>A (p.Arg204Gln) rs751820948
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala) rs201748578
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys) rs1600420551
NM_007254.4(PNKP):c.637-3C>T
NM_007254.4(PNKP):c.667G>A (p.Gly223Arg)
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.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.763G>A (p.Ala255Thr) rs398124249
NM_007254.4(PNKP):c.775C>T (p.Arg259Trp)
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768
NM_007254.4(PNKP):c.782C>T (p.Pro261Leu)
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys) rs1028247558
NM_007254.4(PNKP):c.816+6T>A rs1313353571
NM_007254.4(PNKP):c.817-3T>C
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del) rs1600418728
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.826G>C (p.Gly276Arg)
NM_007254.4(PNKP):c.830C>T (p.Thr277Met) rs1453288814
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn) rs1555811171
NM_007254.4(PNKP):c.922T>C (p.Cys308Arg)
NM_007254.4(PNKP):c.925G>A (p.Ala309Thr)
NM_007254.4(PNKP):c.932G>A (p.Arg311His)
NM_007254.4(PNKP):c.961T>C (p.Phe321Leu) rs1210892846
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574

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