List of variants in gene EP300 reported as likely benign for Rubinstein-Taybi syndrome due to CREBBP mutations

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.2499G>A (p.Ser833=)	rs35560602	0.01700
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)	rs148884710	0.00410
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)	rs61756764	0.00379
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)	rs146242251	0.00070
NM_001429.4(EP300):c.6951G>A (p.Arg2317=)	rs139551099	0.00035
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)	rs188035979	0.00029
NM_001429.4(EP300):c.2380-18T>C	rs189468196	0.00028
NM_001429.4(EP300):c.444G>A (p.Thr148=)	rs376779611	0.00022
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)	rs201480900	0.00011
NM_001429.4(EP300):c.6912C>T (p.Ser2304=)	rs113329190	0.00006
NM_001429.4(EP300):c.1083_1085del	rs561433394
NM_001429.4(EP300):c.*340dup	rs561569141
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	rs533875300

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