ClinVar Miner

List of variants in gene EP300 reported as likely benign by Invitae

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Total variants: 64
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HGVS dbSNP
NM_001429.4(EP300):c.1017G>A (p.Gln339=) rs1601604791
NM_001429.4(EP300):c.108A>G (p.Leu36=) rs374715858
NM_001429.4(EP300):c.1215T>C (p.Asn405=) rs1242358857
NM_001429.4(EP300):c.12T>C (p.Asn4=) rs758604225
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser) rs746628829
NM_001429.4(EP300):c.1351C>G (p.Pro451Ala) rs151308825
NM_001429.4(EP300):c.1439T>C (p.Met480Thr) rs1601607143
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889
NM_001429.4(EP300):c.1998A>G (p.Pro666=) rs1451165837
NM_001429.4(EP300):c.2054-3T>C rs375287913
NM_001429.4(EP300):c.2062C>T (p.Leu688=) rs767283642
NM_001429.4(EP300):c.2145T>C (p.Phe715=) rs750344330
NM_001429.4(EP300):c.2245A>G (p.Met749Val) rs370478867
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339
NM_001429.4(EP300):c.2513G>A (p.Arg838His) rs774840930
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486
NM_001429.4(EP300):c.2634A>G (p.Leu878=) rs1309658711
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496
NM_001429.4(EP300):c.270C>T (p.Ser90=) rs367583060
NM_001429.4(EP300):c.3078G>C (p.Glu1026Asp) rs1601621514
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975
NM_001429.4(EP300):c.3502-9C>A rs752128445
NM_001429.4(EP300):c.3591-6C>T rs368437789
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3933G>A (p.Arg1311=) rs1347207948
NM_001429.4(EP300):c.4173-6G>A rs753407510
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4566G>A (p.Gln1522=) rs765163038
NM_001429.4(EP300):c.4788T>C (p.Phe1596=) rs1601639129
NM_001429.4(EP300):c.4842T>C (p.Asp1614=) rs755816596
NM_001429.4(EP300):c.4980G>A (p.Thr1660=) rs570470790
NM_001429.4(EP300):c.5052T>C (p.Thr1684=) rs776906521
NM_001429.4(EP300):c.5062-5C>T rs1601639609
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458
NM_001429.4(EP300):c.5361C>T (p.Ala1787=) rs200552141
NM_001429.4(EP300):c.5391G>A (p.Gln1797=) rs1014464615
NM_001429.4(EP300):c.5454G>C (p.Leu1818=) rs148026063
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser) rs199650847
NM_001429.4(EP300):c.6138G>C (p.Val2046=) rs1194421079
NM_001429.4(EP300):c.6141T>A (p.Ser2047=) rs1254969855
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg) rs138584705
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183
NM_001429.4(EP300):c.6488C>T (p.Pro2163Leu) rs1013716287
NM_001429.4(EP300):c.6582A>G (p.Gln2194=) rs761195313
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190
NM_001429.4(EP300):c.6954A>G (p.Pro2318=) rs779544216
NM_001429.4(EP300):c.69C>A (p.Leu23=) rs543993838
NM_001429.4(EP300):c.7140A>G (p.Pro2380=) rs543339090
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170
NM_001429.4(EP300):c.7167C>T (p.Ser2389=) rs150845823
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157
NM_001429.4(EP300):c.825G>A (p.Gln275=) rs149058635
NM_001429.4(EP300):c.907-10T>C rs772628747

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