List of variants studied for Rubinstein-Taybi syndrome by Mendelics

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
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_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)	rs142047649	0.00102
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)	rs146119145	0.00016
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)	rs778915687	0.00013
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)	rs201480900	0.00011
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)	rs565779970
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)	rs143660871
NM_001429.4(EP300):c.3707dup (p.Asn1236fs)	rs1601628237
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)	rs1601629319
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)	rs1601636935
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	rs533875300
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del)	rs1601642386
NM_004380.3(CREBBP):c.1694del (p.Gly565fs)	rs1596916327
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup)	rs1596895167
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)	rs756802946
NM_004380.3(CREBBP):c.3982+3A>T	rs1596823180
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)	rs146718571
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)	rs2151309803
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)	rs146887252

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