ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_001079846.1(CREBBP):c.7147_*247delinsC (p.Ser2383_Ter2405delinsXaa) rs1555470631
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779

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