ClinVar Miner

List of variants reported as not provided for Rubinstein-Taybi syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.5723dup (p.Thr1909fs) rs1555912182
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380
Single allele

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