ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln) rs267606752
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu) rs928061320
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter) rs2151308835

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