ClinVar Miner

List of variants reported as uncertain significance for Rubinstein-Taybi syndrome due to CREBBP mutations by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)	rs2151355349
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)	rs2151341032
NM_004380.3(CREBBP):c.5456G>A (p.Cys1819Tyr)

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