ClinVar Miner

List of variants reported for Craniosynostosis syndrome; Intellectual disability, autosomal dominant by Muenke lab, National Institutes of Health

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs) rs1060499550
NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter) rs1060499549
NM_021224.6(ZNF462):c.4263del (p.Glu1422fs) rs1060499551

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