List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by Wessex Regional Genetics Laboratory, Salisbury District Hospital

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)	rs1354934373
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	rs28937315
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)	rs1596854023
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)	rs1596839714
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)	rs1596813665
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)	rs149877180
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)	rs1596812290
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)	rs145988918
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)	rs778448390
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)	rs1596810435
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)	rs1596810419
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)	rs1596805927
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)	rs886041286
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)	rs1057519207
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)	rs1596805792
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)	rs1596804126
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)	rs1596791996

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