ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome 1 by The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University

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Total variants: 7
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GRCh37/hg19 16p13.3(chr16:3794894-3795355)
NM_004380.3(CREBBP):c.1062dup (p.Gln355fs) rs1567318022
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs) rs1567316655
NM_004380.3(CREBBP):c.1941+1G>T rs1555483834
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter) rs1567269316
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter) rs1567262537

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