ClinVar Miner

List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1917del (p.Ile640fs) rs1555483716

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