ClinVar Miner

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

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.104_107del (p.Ser35fs)	rs886037664
NM_004380.3(CREBBP):c.3779+1G>A	rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752

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