ClinVar Miner

List of variants in gene EP300 reported as uncertain significance for Rubinstein-Taybi syndrome 2

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Total variants: 7
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NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110
NM_001429.4(EP300):c.2998-12G>A rs115849119
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp)
NM_001429.4(EP300):c.5061+10G>A rs78432056
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910

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