ClinVar Miner

List of variants in gene combination CREBBP, LOC130058357, LOC130058358 reported as pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations

Included ClinVar conditions (4):

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_004380.2(CREBBP):c.(?_-23)_85+?del
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs)	rs1567386034

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