List of variants reported as pathogenic for Rubinstein-Taybi syndrome by OMIM

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001429.4(EP300):c.104_107del (p.Ser35fs)	rs886037664
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter)	rs137853039
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs)	rs1569108381
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)	rs1057517732
NM_001429.4(EP300):c.638del (p.Gly213fs)	rs1569090642
NM_001429.4(EP300):c.7100del (p.Pro2367fs)	rs1569122847
NM_001429.4:c.730_1760del
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)	rs121434625
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)	rs143247685
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	rs28937315
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.3837-2A>T	rs1567277287
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)	rs121434624
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)	rs121434626
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs)	rs2151330140

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