ClinVar Miner

List of variants studied 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: 5
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NM_001079846.1(CREBBP):c.2947-1G>T rs1555481030
NM_001079846.1(CREBBP):c.5626G>A (p.Val1876Met)
NM_001079846.1(CREBBP):c.7048G>A (p.Ala2350Thr)
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077

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