ClinVar Miner

List of variants in gene CREBBP reported as likely pathogenic for not provided

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Total variants: 21
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1100G>T (p.Cys367Phe) rs1057518498
NM_001079846.1(CREBBP):c.3629A>T (p.Asn1210Ile) rs1555476935
NM_001079846.1(CREBBP):c.4070C>A (p.Ala1357Asp) rs1064796948
NM_001079846.1(CREBBP):c.4244T>C (p.Ile1415Thr) rs1064795050
NM_001079846.1(CREBBP):c.4367C>G (p.Pro1456Arg) rs398124147
NM_001079846.1(CREBBP):c.4406T>C (p.Leu1469Pro) rs1057520191
NM_001079846.1(CREBBP):c.4776+2T>C rs786205495
NM_001079846.1(CREBBP):c.5006G>C (p.Cys1669Ser) rs1064795089
NM_001079846.1(CREBBP):c.5105A>G (p.His1702Arg) rs1567263724
NM_001079846.1(CREBBP):c.5209T>C (p.Cys1737Arg) rs1057524802
NM_001079846.1(CREBBP):c.5222T>C (p.Leu1741Pro) rs1064796457
NM_001079846.1(CREBBP):c.5247_5318del (p.Asn1749_Arg1772del) rs1555471385
NM_001079846.1(CREBBP):c.5248G>A (p.Ala1750Thr) rs1064795794
NM_001079846.1(CREBBP):c.5252A>C (p.Asn1751Thr) rs1064794963
NM_001079846.1(CREBBP):c.5437C>T (p.Arg1813Cys) rs763253161
NM_001079846.1(CREBBP):c.5449_5469dup (p.Ile1817_Gln1823dup) rs1555471355
NM_001079846.1(CREBBP):c.5456A>C (p.His1819Pro) rs1064795628
NM_001079846.1(CREBBP):c.5509del (p.Arg1837fs) rs1064796056
NM_001079846.1(CREBBP):c.5716dup (p.Ala1906fs) rs1567262786
NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.6874C>T (p.Leu2292Phe) rs1064796531

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