ClinVar Miner

List of variants reported as uncertain significance for Neurodevelopmental disorder with impaired speech and hyperkinetic movements by Baylor Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter) rs200699349 0.00045
NM_001379659.1(ZNF142):c.4331G>A (p.Arg1444His) rs200398690 0.00012
NM_001379659.1(ZNF142):c.3139C>T (p.Arg1047Trp) rs373309205 0.00007
NM_001379659.1(ZNF142):c.4717C>T (p.Arg1573Trp) rs778031136 0.00002
NM_001379659.1(ZNF142):c.1375C>T (p.Arg459Cys) rs763899662 0.00001
NM_001379659.1(ZNF142):c.4059C>G (p.His1353Gln) rs768106776 0.00001
NM_001379659.1(ZNF142):c.1321A>G (p.Met441Val) rs1937739949
NM_001379659.1(ZNF142):c.1763A>C (p.Gln588Pro)
NM_001379659.1(ZNF142):c.4487G>C (p.Ser1496Thr)
NM_001379659.1(ZNF142):c.4631G>A (p.Arg1544Gln)

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