ClinVar Miner

List of variants in gene PNKP reported as likely pathogenic

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.1196T>C (p.Leu399Pro) rs766816785 0.00008
NM_007254.4(PNKP):c.1126+3_1126+4dup rs750550558 0.00006
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp) rs748365843 0.00003
NM_007254.4(PNKP):c.1387-2A>G rs766419491 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1188+1G>A rs1057518102 0.00001
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter) rs372404688 0.00001
NM_007254.4(PNKP):c.1215dup (p.Val406fs) rs1389034284 0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del rs1568658916 0.00001
NM_007254.4(PNKP):c.229C>T (p.Gln77Ter) rs1568662343 0.00001
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850 0.00001
GRCh37/hg19 19q13.33(chr19:50364553-50365166)x1
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs) rs1131691883
NM_007254.4(PNKP):c.1029+1G>A rs959497903
NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1127-1_1127delinsAA rs2122324210
NM_007254.4(PNKP):c.1188+1del
NM_007254.4(PNKP):c.1189_1237dup (p.Leu413delinsArgHisAlaArgLeuLeuAlaAlaLeuCysAspHisValTer) rs1555810891
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1225T>C (p.Cys409Arg) rs1338672803
NM_007254.4(PNKP):c.1230_1231del (p.Glu410fs) rs1064794452
NM_007254.4(PNKP):c.1251_1252insACGGGTCGCCATCGACA (p.Arg418fs) rs730882224
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs) rs768847609
NM_007254.4(PNKP):c.1267_1286dup (p.Ser430fs)
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1283_1296del (p.Ala428fs)
NM_007254.4(PNKP):c.1287_1298+1dup rs1555810849
NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs) rs796052860
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1296_1298+13del
NM_007254.4(PNKP):c.1298+1G>A rs149614720
NM_007254.4(PNKP):c.1306_1307del (p.Gln436fs) rs2122319377
NM_007254.4(PNKP):c.1314_1317dup (p.Ala440fs)
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1366C>T (p.Gln456Ter)
NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del) rs796052863
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
NM_007254.4(PNKP):c.1401_1404del (p.Asp468fs) rs2122317324
NM_007254.4(PNKP):c.1462dup (p.Ala488fs) rs1343679884
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter) rs760131892
NM_007254.4(PNKP):c.199-2A>G rs1391913873
NM_007254.4(PNKP):c.199-8_199-5del rs751037387
NM_007254.4(PNKP):c.23del (p.Gly8fs) rs1600423552
NM_007254.4(PNKP):c.265dup (p.Val89fs) rs879255541
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.337G>T (p.Glu113Ter) rs11671530
NM_007254.4(PNKP):c.636+1G>C rs1247055716
NM_007254.4(PNKP):c.63dup (p.Ile22fs) rs1568663209
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.829dup (p.Thr277fs)
NM_007254.4(PNKP):c.838del (p.Ser280fs) rs2074787192
NM_007254.4(PNKP):c.865+1G>T
NM_007254.4(PNKP):c.937-2A>G rs1568660279

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