ClinVar Miner

List of variants in gene EP300 reported as likely pathogenic

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Total variants: 23
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HGVS dbSNP
NC_000022.11:g.41169562C>T
NM_001429.3(EP300):c.3671+5_3671+8delGTAA rs886042977
NM_001429.4(EP300):c.1092C>A (p.Cys364Ter) rs786205557
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter) rs1555907286
NM_001429.4(EP300):c.2161dup (p.Ala721fs) rs1057519012
NM_001429.4(EP300):c.3649G>A (p.Asp1217Asn) rs1085307911
NM_001429.4(EP300):c.3731_3733TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.4016T>C (p.Met1339Thr) rs1064795607
NM_001429.4(EP300):c.4026-2A>G rs1555911098
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.5074T>C (p.Cys1692Arg) rs1555912107
NM_001429.4(EP300):c.5074T>G (p.Cys1692Gly) rs1555912107
NM_001429.4(EP300):c.5483T>C (p.Leu1828Pro) rs1057518002
NM_001429.4(EP300):c.5571_5578del (p.Gly1860fs) rs1085307564
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6868C>T (p.Gln2290Ter) rs1555912362

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