ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability, autosomal dominant 55, with seizures by MGZ Medical Genetics Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_138459.5(NUS1):c.366GTG[1] (p.Trp123del) rs2481983848
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly) rs2114687510

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