ClinVar Miner

List of variants in gene EP300 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3807-4T>G rs1337278789
NM_001429.4(EP300):c.3807-7C>T
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.6177_6185dup (p.Arg2059_Pro2061dup) rs2145519648
NM_001429.4(EP300):c.6820C>G (p.Gln2274Glu)
NM_001429.4(EP300):c.7041_7046del (p.His2348_Pro2349del) rs2145523559

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