ClinVar Miner

List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NC_000016.10:g.3729564_3729566del
NM_001079846.1(CREBBP):c.4322_4324del (p.Gly1441del) rs1555473122

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