ClinVar Miner

List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)	rs2053254528
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)	rs2151304304

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