ClinVar Miner

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

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Total variants: 5
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NM_001079846.1(CREBBP):c.3374A>T (p.Asn1125Ile) rs1555478297
NM_001079846.1(CREBBP):c.4780_4782TTC[1] (p.Phe1595del) rs1555471931
NM_001079846.1(CREBBP):c.5242C>T (p.Arg1748Cys) rs1555471394
NM_001079846.1(CREBBP):c.5247C>A (p.Asn1749Lys) rs375462934
NM_001079846.1(CREBBP):c.5252A>G (p.Asn1751Ser) rs1064794963

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