ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome by GenomeConnect, ClinGen

Included ClinVar conditions (11):

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal carcinoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Rubinstein-Taybi syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)	rs61753380	0.00307
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
Single allele

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