List of variants in gene combination EP300, LOC130067530 reported as benign for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.94+13A>G	rs201124490	0.00062
NM_001429.4(EP300):c.45G>A (p.Arg15=)	rs752119517	0.00008
NM_001429.4(EP300):c.63G>C (p.Pro21=)

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