ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance for History of neurodevelopmental disorder

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Total variants: 10
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HGVS dbSNP
NM_004380.2(CREBBP):c.2063C>T (p.Pro688Leu)
NM_004380.2(CREBBP):c.3089C>T (p.Ser1030Phe) rs757051244
NM_004380.2(CREBBP):c.320C>G (p.Pro107Arg)
NM_004380.2(CREBBP):c.3251-3C>T
NM_004380.2(CREBBP):c.4150G>A (p.Glu1384Lys)
NM_004380.2(CREBBP):c.5666C>T (p.Pro1889Leu)
NM_004380.2(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441
NM_004380.2(CREBBP):c.6454C>G (p.Pro2152Ala)
NM_004380.2(CREBBP):c.6666_6677delTGGGGGCATGGC (p.Gly2224_Gly2227del) rs778220523
NM_004380.2(CREBBP):c.6820A>G (p.Met2274Val)

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