ClinVar Miner

List of variants in gene EP300 reported as pathogenic

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Total variants: 51
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HGVS dbSNP
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NC_000022.10:g.(?_41550979)_(41560154_?)del
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NC_000022.11:g.41150384_41156982delinsTG
NC_000022.11:g.41155018C>T
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.102_103CT[1] (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1066C>T (p.Gln356Ter) rs1555907278
NM_001429.4(EP300):c.1508dup (p.Met503fs) rs1555907749
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.2164dup (p.Gln722fs) rs879253873
NM_001429.4(EP300):c.2540dup (p.Ser848fs) rs1569107391
NM_001429.4(EP300):c.272del (p.Pro91fs) rs1555905780
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) rs886041830
NM_001429.4(EP300):c.319C>T (p.Gln107Ter) rs1064797038
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001429.4(EP300):c.3412dup (p.Val1138fs) rs1555910122
NM_001429.4(EP300):c.3472C>T (p.Gln1158Ter) rs886041739
NM_001429.4(EP300):c.3502-1G>T rs886041520
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3728+5G>C rs1114167305
NM_001429.4(EP300):c.3841C>T (p.Arg1281Ter) rs1555910814
NM_001429.4(EP300):c.3934C>T (p.Arg1312Ter) rs1555911075
NM_001429.4(EP300):c.4065C>A (p.Tyr1355Ter) rs886043598
NM_001429.4(EP300):c.4188_4189insCCTATGTATATCTCCTATACATATCTCCTATCGAACA (p.Tyr1397fs) rs1064794624
NM_001429.4(EP300):c.4190_4191dup (p.Leu1398fs) rs1555911201
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4579_4589del (p.Arg1527fs) rs1555911580
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.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro) rs1569120903
NM_001429.4(EP300):c.5489_5491GGA[1] (p.Arg1831del) rs1569120910
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) rs28937578
NM_001429.4(EP300):c.68_69TC[1] (p.Ser24fs) rs1555902247
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4(EP300):c.7220_7221CA[1] (p.Gln2408fs) rs1057519375
NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del) rs876661318
NM_001429.4:c.730_1760del

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