List of variants reported as likely benign for Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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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.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

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