ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NG_009873.1:g.(?_5000)_(160068_?)del
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) rs1567263114

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