ClinVar Miner

List of variants in gene CREBBP reported as pathogenic for Inborn genetic diseases

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Total variants: 6
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NM_004380.3(CREBBP):c.3428del (p.Asp1143fs) rs1555478331
NM_004380.3(CREBBP):c.3955C>T (p.Arg1319Ter) rs1555475250
NM_004380.3(CREBBP):c.4348T>C (p.Tyr1450His) rs1555473499
NM_004380.3(CREBBP):c.4409A>G (p.His1470Arg) rs797044860
NM_004380.3(CREBBP):c.5129G>A (p.Cys1710Tyr) rs1555471813
NM_004380.3(CREBBP):c.90del (p.Phe30fs) rs1555496732

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