ClinVar Miner

List of variants in gene PNKP reported as likely pathogenic for not provided

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Total variants: 16
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HGVS dbSNP
NM_007254.2(PNKP):c.1003_1016delGGCTTCGAGCTCCC (p.Gly335Serfs) rs1131691883
NM_007254.2(PNKP):c.1029+1G>A rs959497903
NM_007254.2(PNKP):c.1207C>T (p.Gln403Ter) rs372404688
NM_007254.2(PNKP):c.1215dupT (p.Val406Cysfs) rs1389034284
NM_007254.2(PNKP):c.1230_1231delGA (p.Glu410Aspfs) rs1064794452
NM_007254.2(PNKP):c.1278_1291delAGACGCCGCGAGCC (p.Asp427Argfs) rs764379536
NM_007254.2(PNKP):c.1381_1383delAAC (p.Asn461del) rs796052863
NM_007254.2(PNKP):c.603dupT rs796052859
NM_007254.3(PNKP):c.1029+2T>C rs199919568
NM_007254.3(PNKP):c.1126+3_1126+4dupAA rs750550558
NM_007254.3(PNKP):c.1188+1G>A rs1057518102
NM_007254.3(PNKP):c.1287_1298+1dupGAGCCGCGCCAGG rs1555810849
NM_007254.3(PNKP):c.1295_1298+6delCCAGGTAGCG rs587784366
NM_007254.3(PNKP):c.265_266insG (p.Val89Glyfs) rs879255541
NM_007254.4(PNKP):c.1189_1237dup (p.Leu413Argfs) rs1555810891
NM_007254.4(PNKP):c.229C>T (p.Gln77Ter)

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