List of variants reported as uncertain significance for Rubinstein-Taybi syndrome due to CREBBP mutations by Baylor Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	rs369930675	0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	rs759047530	0.00009
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys)	rs1318683084
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe)	rs1476678901
NM_004380.3(CREBBP):c.3699-11C>A
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg)	rs749189606
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr)	rs1231016252

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