ClinVar Miner

List of variants in gene CREBBP studied for Menke-Hennekam syndrome 1

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Total variants: 5
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HGVS dbSNP
NM_001079846.1(CREBBP):c.5014T>C (p.Cys1672Arg) rs1567265203
NM_001079846.1(CREBBP):c.5056G>A (p.Glu1686Lys) rs1567265131
NM_001079846.1(CREBBP):c.5486G>A (p.Arg1829Gln) rs1131691326
NM_001079846.1(CREBBP):c.5488C>T (p.Arg1830Trp) rs886039491
NM_001079846.1(CREBBP):c.5500A>G (p.Met1834Val) rs797045037

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