ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077 0.00002
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865 0.00002
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470 0.00001
NM_004380.3(CREBBP):c.3061-1G>T rs1555481030

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