ClinVar Miner

List of variants reported as benign for Rubinstein-Taybi syndrome due to CREBBP mutations by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.2(CREBBP):c.1953T>C (p.Tyr651=) rs130003
NM_004380.2(CREBBP):c.2784G>A (p.Pro928=) rs3025694
NM_004380.2(CREBBP):c.3698+7G>A rs374345970
NM_004380.2(CREBBP):c.3900C>A (p.Ile1300=) rs129974
NM_004380.2(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.2(CREBBP):c.5988C>T (p.Ala1996=) rs181646656
NM_004380.2(CREBBP):c.6621A>G (p.Gln2207=) rs55960450
NM_004380.2(CREBBP):c.6711C>T (p.Pro2237=) rs3751845
NM_004380.2(CREBBP):c.7212A>G (p.Glu2404=) rs55916120
NM_004380.2(CREBBP):c.939T>C (p.Asp313=) rs3025702

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