ClinVar Miner

List of variants in gene CREBBP reported as likely pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)	rs2051863859
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)	rs2051852330

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