ClinVar Miner

List of variants in gene PNKP reported as uncertain significance for Early infantile epileptic encephalopathy 10; Ataxia-oculomotor apraxia 4

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Total variants: 9
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NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405

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