ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs) rs1601621506
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs) rs1596812256
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter) rs1596783639

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