ClinVar Miner

List of variants in gene PNKP reported as pathogenic by GeneDx

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Gene type:
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Total variants: 12
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NM_007254.4(PNKP):c.1189-2A>C rs767645983
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1293_1298+2dup rs796052861
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) rs539286945
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1386+1G>A rs1057520630
NM_007254.4(PNKP):c.490C>T (p.Gln164Ter) rs375781731
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.4(PNKP):c.992G>A (p.Trp331Ter) rs772727116

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