ClinVar Miner

List of variants in gene EP300 reported as pathogenic by Ambry Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.1066C>T (p.Gln356Ter) rs1555907278
NM_001429.4(EP300):c.1447C>T (p.Gln483Ter)
NM_001429.4(EP300):c.1508dup (p.Met503fs) rs1555907749
NM_001429.4(EP300):c.1879_1889delinsTTGAAGTGGTAGTATTC (p.Ala627_Tyr630delinsLeuLysTrpTer)
NM_001429.4(EP300):c.272del (p.Pro91fs) rs1555905780
NM_001429.4(EP300):c.4026-2A>G rs1555911098
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.4575dup (p.Glu1526fs) rs2059177123
NM_001429.4(EP300):c.4579_4589del (p.Arg1527fs) rs1555911580
NM_001429.4(EP300):c.580_587del (p.Gly194fs)
NM_001429.4(EP300):c.6792_6793insT (p.Leu2265fs)

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