ClinVar Miner

List of variants in gene CREBBP reported as pathogenic by OMIM

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Total variants: 13
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HGVS dbSNP
CREBBP, 2-BP DEL, NT5222
NM_001079846.1(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.3410A>G (p.Tyr1137Cys) rs28937315
NM_001079846.1(CREBBP):c.3718G>A (p.Glu1240Lys) rs267606752
NM_001079846.1(CREBBP):c.3723-2A>T rs1567277287
NM_001079846.1(CREBBP):c.4019G>C (p.Arg1340Pro) rs121434626
NM_001079846.1(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
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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