ClinVar Miner

List of variants in gene EP300 reported as pathogenic for Rubinstein-Taybi syndrome 2; Colorectal cancer

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Total variants: 10
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NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter)
NM_001429.4(EP300):c.4073_4074dup (p.Ala1359fs)
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.584C>A (p.Ser195Ter)
NM_001429.4(EP300):c.832del (p.Thr278fs)

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