ClinVar Miner

List of variants in gene EP300 studied for not provided

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Total variants: 62
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HGVS dbSNP
NC_000022.11:g.41149030T>C
NM_001429.3(EP300):c.3671+5_3671+8delGTAA rs886042977
NM_001429.4(EP300):c.103T>G (p.Ser35Ala) rs546292445
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.1442C>T (p.Pro481Leu)
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873
NM_001429.4(EP300):c.1573C>T (p.Pro525Ser) rs886042427
NM_001429.4(EP300):c.1710G>A (p.Gln570=) rs886043092
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256
NM_001429.4(EP300):c.2252A>G (p.Tyr751Cys)
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979
NM_001429.4(EP300):c.2503G>A (p.Val835Ile) rs1569107347
NM_001429.4(EP300):c.2540dup (p.Ser848fs) rs1569107391
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368
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.3330G>T (p.Gln1110His) rs374163115
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.3591-6C>T rs368437789
NM_001429.4(EP300):c.3649G>A (p.Asp1217Asn) rs1085307911
NM_001429.4(EP300):c.3841C>T (p.Arg1281Ter) rs1555910814
NM_001429.4(EP300):c.3866C>T (p.Ser1289Phe) rs1555910822
NM_001429.4(EP300):c.3913C>T (p.Arg1305Cys) rs1555911073
NM_001429.4(EP300):c.3934C>T (p.Arg1312Ter) rs1555911075
NM_001429.4(EP300):c.4016T>C (p.Met1339Thr) rs1064795607
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.4214G>A (p.Arg1405His) rs138855106
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257
NM_001429.4(EP300):c.4618-11C>T
NM_001429.4(EP300):c.471A>G (p.Pro157=)
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4779+18A>G rs146245982
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.495G>T (p.Met165Ile) rs1343346566
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.5172C>A (p.Thr1724=) rs142330184
NM_001429.4(EP300):c.536C>G (p.Ala179Gly) rs1064797288
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.5572C>G (p.Pro1858Ala) rs398123610
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
NM_001429.4(EP300):c.569A>G (p.Gln190Arg)
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237
NM_001429.4(EP300):c.574A>T (p.Met192Leu) rs771650739
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200
NM_001429.4(EP300):c.5966T>G (p.Met1989Arg) rs760421892
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215
NM_001429.4(EP300):c.6713A>G (p.Asn2238Ser) rs767335677
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6868C>T (p.Gln2290Ter) rs1555912362
NM_001429.4(EP300):c.7072C>G (p.Pro2358Ala) rs1569122827
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157

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