ClinVar Miner

List of variants in gene EP300 reported as pathogenic for not provided

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1327_1328del (p.Leu443fs) rs2145715515
NM_001429.4(EP300):c.1517del (p.Met506fs) rs1601607265
NM_001429.4(EP300):c.1876C>T (p.Arg626Ter)
NM_001429.4(EP300):c.2064del (p.Pro689fs) rs1601617065
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs) rs1601618876
NM_001429.4(EP300):c.2305C>T (p.Gln769Ter) rs2145735938
NM_001429.4(EP300):c.2333dup (p.Asn779fs) rs2145736063
NM_001429.4(EP300):c.2485C>T (p.Gln829Ter)
NM_001429.4(EP300):c.2540dup (p.Ser848fs) rs1569107391
NM_001429.4(EP300):c.256C>T (p.Arg86Ter) rs1601598122
NM_001429.4(EP300):c.272dup (p.Pro91_Asn92insTer) rs1555905780
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.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.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3685G>T (p.Glu1229Ter) rs866430850
NM_001429.4(EP300):c.3740G>A (p.Cys1247Tyr) rs2145756387
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.4103del (p.Gly1368fs) rs1601633128
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.4213del (p.Arg1405fs)
NM_001429.4(EP300):c.4301A>T (p.His1434Leu)
NM_001429.4(EP300):c.4307G>A (p.Trp1436Ter) rs893031937
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.4875dup (p.Gly1626fs) rs2059200372
NM_001429.4(EP300):c.5720del (p.Pro1907fs) rs1601640325
NM_001429.4(EP300):c.5973dup (p.Gln1992fs) rs2059209950
NM_001429.4(EP300):c.604C>T (p.Arg202Ter)
NM_001429.4(EP300):c.6970dup (p.His2324fs)
NM_001429.4(EP300):c.7081C>T (p.Gln2361Ter) rs2145523848
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847

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