ClinVar Miner

List of variants in gene CREBBP reported as pathogenic by The Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan University

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Total variants: 8
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GRCh37/hg19 16p13.3(chr16:3794894-3795355)
NM_001079846.1(CREBBP):c.1062dup (p.Gln355fs) rs1567318022
NM_001079846.1(CREBBP):c.1216+1355_1216+1356del rs1567316655
NM_001079846.1(CREBBP):c.1827+1G>T rs1555483834
NM_001079846.1(CREBBP):c.4546A>T (p.Lys1516Ter) rs1567269316
NM_001079846.1(CREBBP):c.5791C>T (p.Gln1931Ter) rs1567262537
NM_004380.2(CREBBP):c.5623C>T (p.Arg1875Cys)

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