ClinVar Miner

List of variants reported as pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by OMIM

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP
CREBBP, 2-BP DEL, NT5222
NM_004380.2(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.2(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.2(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.2(CREBBP):c.3837-2A>T
NM_004380.2(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_004380.2(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626

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