ClinVar Miner

List of variants reported as uncertain significance for Rubinstein-Taybi syndrome due to CREBBP mutations by 3billion

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)	rs2151355349
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)	rs2151341032

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