ClinVar Miner

List of variants reported as uncertain significance for Rubinstein-Taybi syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001079846.1(CREBBP):c.5626G>A (p.Val1876Met) rs760771706
NM_001079846.1(CREBBP):c.7048G>A (p.Ala2350Thr) rs756011865
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077

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