ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe) rs200616542
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His) rs988251457

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