ClinVar Miner

List of variants in gene EP300 reported as likely pathogenic

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Gene type:
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Total variants: 80
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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.1092C>A (p.Cys364Ter) rs786205557
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter) rs1555907286
NM_001429.4(EP300):c.1282+1G>A
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_001429.4(EP300):c.2132-1G>A rs2145734002
NM_001429.4(EP300):c.2161dup (p.Ala721fs) rs1057519012
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.3205G>A (p.Asp1069Asn) rs2145744796
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001429.4(EP300):c.3451C>T (p.Gln1151Ter)
NM_001429.4(EP300):c.3502-2A>G rs2059089321
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp) rs1340981566
NM_001429.4(EP300):c.3649G>A (p.Asp1217Asn) rs1085307911
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3671+5G>C
NM_001429.4(EP300):c.3671+5_3671+8del rs886042977
NM_001429.4(EP300):c.3729-1G>T rs2145756375
NM_001429.4(EP300):c.3731TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.3733del (p.Val1245fs)
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr) rs1601629319
NM_001429.4(EP300):c.3889A>T (p.Arg1297Ter)
NM_001429.4(EP300):c.4016T>C (p.Met1339Thr) rs1064795607
NM_001429.4(EP300):c.4070_4092del (p.Thr1357fs)
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser) rs1464734494
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.4232C>T (p.Thr1411Ile) rs1601633708
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
NM_001429.4(EP300):c.4337A>G (p.Tyr1446Cys)
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.4453-10_4453-8delinsAAAC rs2145769898
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4540G>C (p.Glu1514Gln)
NM_001429.4(EP300):c.4578_4581del (p.Arg1527fs)
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter) rs1601636935
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.4898T>G (p.Leu1633Arg)
NM_001429.4(EP300):c.5047T>C (p.Cys1683Arg) rs2145513922
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.5245C>T (p.Arg1749Trp) rs2145515250
NM_001429.4(EP300):c.5255A>G (p.Asn1752Ser)
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro) rs1569120903
NM_001429.4(EP300):c.5483T>C (p.Leu1828Pro) rs1057518002
NM_001429.4(EP300):c.5485C>T (p.Arg1829Cys) rs2145516075
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro) rs2145516079
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr) rs1601639958
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser) rs1379274045
NM_001429.4(EP300):c.5571_5578del (p.Gly1860fs) rs1085307564
NM_001429.4(EP300):c.5873del (p.Pro1958fs) rs2145518271
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
NM_001429.4(EP300):c.598C>T (p.Arg200Ter) rs769721953
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs) rs2059210417
NM_001429.4(EP300):c.6058del (p.Gln2020fs)
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs) rs2059211409
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
NM_001429.4(EP300):c.6532C>T (p.Gln2178Ter)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6608dup (p.Gly2204fs) rs2059215587
NM_001429.4(EP300):c.6659C>T (p.Pro2220Leu) rs555467754
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819
NM_001429.4(EP300):c.6868C>T (p.Gln2290Ter) rs1555912362
NM_001429.4(EP300):c.6970dup (p.His2324fs)
NM_001429.4(EP300):c.6986dup (p.Arg2330fs) rs2059219404
NM_001429.4(EP300):c.7097del (p.Ser2366fs) rs2059220495
NM_001429.4(EP300):c.7111T>A (p.Ser2371Thr) rs2059220693
NM_001429.4(EP300):c.7223A>G (p.Gln2408Arg)

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