ClinVar Miner

List of variants in gene PNKP reported as pathogenic for Early infantile epileptic encephalopathy 10

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Total variants: 7
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NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.526C>T (p.Leu176Phe) rs267606957
NM_007254.4(PNKP):c.636+1G>T rs1247055716
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956

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