ClinVar Miner

List of variants in gene PNKP reported as likely pathogenic by GeneDx

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1126+3_1126+4dup rs750550558 0.00006
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859 0.00004
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.229C>T (p.Gln77Ter) rs1568662343 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.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.1230_1231del (p.Glu410fs) rs1064794452
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs) rs768847609
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.1366C>T (p.Gln456Ter)
NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del) rs796052863
NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter) rs760131892
NM_007254.4(PNKP):c.199-8_199-5del rs751037387
NM_007254.4(PNKP):c.23del (p.Gly8fs) rs1600423552

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