ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_004380.3(CREBBP):c.2063C>T (p.Pro688Leu) rs375125948
NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) rs757051244
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg) rs766844540
NM_004380.3(CREBBP):c.4150G>A (p.Glu1384Lys) rs1567272395
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441
NM_004380.3(CREBBP):c.6454C>G (p.Pro2152Ala) rs773348705
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1]) rs778220523
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val) rs1306100144

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