List of variants reported as uncertain significance for Rubinstein-Taybi syndrome due to CREBBP mutations by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)	rs759041100	0.00004
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)	rs542970560	0.00001
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	rs1211983012	0.00001
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	rs750178517
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile)	rs759041100
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His)	rs2052315739
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro)	rs2051850835
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg)	rs751739281
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala)	rs2054806972

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