ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1618C>T (p.Pro540Ser) rs148023511
NM_001079846.1(CREBBP):c.2198A>G (p.Gln733Arg) rs147805823

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