List of variants reported as uncertain significance 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	rs142758675	0.00011
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)	rs749979249	0.00004
NM_001429.4(EP300):c.1781C>T (p.Thr594Met)	rs750740148	0.00002
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)	rs1261612920

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