ClinVar Miner

List of variants reported for Neurodevelopmental disorder with impaired speech and hyperkinetic movements by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp) rs367658234 0.00003
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe) rs1275959058 0.00001
NM_001105537.3(ZNF142):c.[4183delC;4185G>A]
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) rs1559296368

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