List of variants in gene EP300 reported as likely benign for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer

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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.2367T>C (p.Ala789=)	rs759989339	0.00004
NM_001429.4(EP300):c.1887C>T (p.Tyr629=)	rs144594889	0.00002
NM_001429.4(EP300):c.2513G>A (p.Arg838His)	rs774840930	0.00001

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