ClinVar Miner

List of variants reported as uncertain significance for Rubinstein-Taybi syndrome due to CREBBP mutations by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn)	rs2141181124
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)

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