ClinVar Miner

List of variants in gene EP300 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln) rs149456776 0.00006
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr) rs374135370 0.00005
NM_001429.4(EP300):c.1168+5G>A rs940896515 0.00003
NM_001429.4(EP300):c.7100C>T (p.Pro2367Leu) rs748953233 0.00003
NM_001429.4(EP300):c.*7C>T rs936561690 0.00002
NM_001429.4(EP300):c.2252A>G (p.Tyr751Cys) rs755815528 0.00002
NM_001429.4(EP300):c.3971G>A (p.Arg1324Lys) rs1487546042 0.00002
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val) rs887226313 0.00002
NM_001429.4(EP300):c.596G>C (p.Gly199Ala) rs761775649 0.00002
NM_001429.4(EP300):c.767C>T (p.Pro256Leu) rs1038337705 0.00002
NM_001429.4(EP300):c.1081G>A (p.Val361Met) rs1341704749 0.00001
NM_001429.4(EP300):c.1226A>G (p.His409Arg) rs1466532504 0.00001
NM_001429.4(EP300):c.124G>A (p.Asp42Asn) rs1430803896 0.00001
NM_001429.4(EP300):c.169A>G (p.Asn57Asp) rs1186074560 0.00001
NM_001429.4(EP300):c.2066C>G (p.Pro689Arg) rs1018942944 0.00001
NM_001429.4(EP300):c.2102A>T (p.Gln701Leu) rs764358336 0.00001
NM_001429.4(EP300):c.2260C>T (p.Arg754Cys) rs2145735782 0.00001
NM_001429.4(EP300):c.2473C>T (p.Pro825Ser) rs751515727 0.00001
NM_001429.4(EP300):c.2498C>T (p.Ser833Leu) rs1803789601 0.00001
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188 0.00001
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys) rs1176732027 0.00001
NM_001429.4(EP300):c.3842G>A (p.Arg1281Gln) rs764929476 0.00001
NM_001429.4(EP300):c.4118T>G (p.Phe1373Cys) rs768757244 0.00001
NM_001429.4(EP300):c.4152C>G (p.Asp1384Glu) rs1366876915 0.00001
NM_001429.4(EP300):c.4601G>A (p.Ser1534Asn) rs2059177246 0.00001
NM_001429.4(EP300):c.495G>T (p.Met165Ile) rs1343346566 0.00001
NM_001429.4(EP300):c.5092A>G (p.Thr1698Ala) rs549834848 0.00001
NM_001429.4(EP300):c.6179C>G (p.Ser2060Cys) rs2059211839 0.00001
NM_001429.4(EP300):c.6243G>A (p.Leu2081=) rs2059212331 0.00001
NM_001429.4(EP300):c.635T>C (p.Met212Thr) rs778437552 0.00001
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr) rs778354178 0.00001
NM_001429.4(EP300):c.6518A>C (p.Asn2173Thr) rs1555912302 0.00001
NM_001429.4(EP300):c.6764C>T (p.Ala2255Val) rs755172061 0.00001
NM_001429.4(EP300):c.7105C>A (p.Gln2369Lys) rs1163407374 0.00001
NM_001429.4(EP300):c.892G>A (p.Gly298Arg) rs755143118 0.00001
NM_001429.4(EP300):c.898C>T (p.Pro300Ser) rs1414372233 0.00001
NM_001429.4(EP300):c.1040A>G (p.His347Arg) rs2145710261
NM_001429.4(EP300):c.1053C>G (p.Cys351Trp) rs1388226313
NM_001429.4(EP300):c.1057C>T (p.Arg353Cys) rs2145710304
NM_001429.4(EP300):c.1090T>C (p.Cys364Arg) rs2518130018
NM_001429.4(EP300):c.1135A>C (p.Met379Leu)
NM_001429.4(EP300):c.1181C>T (p.Ala394Val)
NM_001429.4(EP300):c.1219A>C (p.Thr407Pro)
NM_001429.4(EP300):c.1255A>G (p.Asn419Asp) rs2058908118
NM_001429.4(EP300):c.1370G>A (p.Ser457Asn) rs2145715608
NM_001429.4(EP300):c.137A>T (p.Glu46Val) rs2145696320
NM_001429.4(EP300):c.1514C>A (p.Pro505His)
NM_001429.4(EP300):c.1532C>T (p.Ala511Val) rs374245119
NM_001429.4(EP300):c.1543G>A (p.Gly515Arg)
NM_001429.4(EP300):c.1595T>C (p.Met532Thr) rs774952188
NM_001429.4(EP300):c.1622+4A>T rs2518139308
NM_001429.4(EP300):c.1738C>G (p.Arg580Gly)
NM_001429.4(EP300):c.1745A>G (p.His582Arg)
NM_001429.4(EP300):c.175G>C (p.Gly59Arg) rs1569090280
NM_001429.4(EP300):c.1760T>C (p.Leu587Pro)
NM_001429.4(EP300):c.1761-8T>G
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp) rs2145724948
NM_001429.4(EP300):c.1879-2del rs2518144912
NM_001429.4(EP300):c.1879-4A>G
NM_001429.4(EP300):c.1927G>A (p.Glu643Lys) rs2145725993
NM_001429.4(EP300):c.1931T>C (p.Leu644Pro)
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg) rs2145726493
NM_001429.4(EP300):c.2060C>T (p.Pro687Leu)
NM_001429.4(EP300):c.2113C>G (p.Arg705Gly) rs2145732463
NM_001429.4(EP300):c.2241+5G>A rs1351812603
NM_001429.4(EP300):c.2243C>G (p.Pro748Arg)
NM_001429.4(EP300):c.2249G>A (p.Gly750Asp) rs1433543827
NM_001429.4(EP300):c.2249G>C (p.Gly750Ala) rs1433543827
NM_001429.4(EP300):c.2325G>T (p.Met775Ile) rs2145736030
NM_001429.4(EP300):c.2357G>T (p.Ser786Ile) rs2145736158
NM_001429.4(EP300):c.2404C>T (p.Pro802Ser) rs2059032664
NM_001429.4(EP300):c.2479C>A (p.Leu827Ile)
NM_001429.4(EP300):c.2494C>A (p.Pro832Thr)
NM_001429.4(EP300):c.2584C>G (p.Pro862Ala)
NM_001429.4(EP300):c.2657C>G (p.Pro886Arg) rs1436028814
NM_001429.4(EP300):c.2689G>C (p.Val897Leu) rs1375233087
NM_001429.4(EP300):c.2779C>G (p.Pro927Ala)
NM_001429.4(EP300):c.2812A>G (p.Thr938Ala) rs2145737964
NM_001429.4(EP300):c.28C>T (p.Pro10Ser) rs2145665490
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.312G>T (p.Met104Ile)
NM_001429.4(EP300):c.3152C>T (p.Pro1051Leu) rs2145744549
NM_001429.4(EP300):c.3182_3183delinsAA (p.Thr1061Lys)
NM_001429.4(EP300):c.3204G>C (p.Gln1068His) rs2059069260
NM_001429.4(EP300):c.332G>A (p.Ser111Asn) rs2145696782
NM_001429.4(EP300):c.3398G>A (p.Arg1133Gln) rs2145747503
NM_001429.4(EP300):c.3450A>T (p.Glu1150Asp)
NM_001429.4(EP300):c.3476G>A (p.Ser1159Asn)
NM_001429.4(EP300):c.3479T>A (p.Leu1160His)
NM_001429.4(EP300):c.3518A>G (p.Gln1173Arg)
NM_001429.4(EP300):c.3560G>A (p.Arg1187His)
NM_001429.4(EP300):c.3685G>A (p.Glu1229Lys)
NM_001429.4(EP300):c.3748T>C (p.Cys1250Arg)
NM_001429.4(EP300):c.3862T>C (p.Phe1288Leu)
NM_001429.4(EP300):c.3866C>T (p.Ser1289Phe) rs1555910822
NM_001429.4(EP300):c.3899C>T (p.Thr1300Ile) rs2517820529
NM_001429.4(EP300):c.4131T>G (p.His1377Gln)
NM_001429.4(EP300):c.4172+5_4172+7delinsAT rs2145763996
NM_001429.4(EP300):c.4177G>A (p.Val1393Ile) rs2059158153
NM_001429.4(EP300):c.4185A>G (p.Ile1395Met) rs937597399
NM_001429.4(EP300):c.425G>A (p.Gly142Glu)
NM_001429.4(EP300):c.433C>G (p.Gln145Glu) rs2145697001
NM_001429.4(EP300):c.4408A>G (p.Met1470Val) rs1569117424
NM_001429.4(EP300):c.4447T>C (p.Tyr1483His)
NM_001429.4(EP300):c.4472C>T (p.Thr1491Ile)
NM_001429.4(EP300):c.4487C>G (p.Thr1496Arg) rs2145770052
NM_001429.4(EP300):c.4515G>A (p.Glu1505=) rs2059176809
NM_001429.4(EP300):c.4536_4559dup (p.Leu1520_Glu1521insLeuGluGluSerIleLysGluLeu)
NM_001429.4(EP300):c.4580G>T (p.Arg1527Ile) rs2145770415
NM_001429.4(EP300):c.4622C>T (p.Thr1541Ile)
NM_001429.4(EP300):c.4656T>G (p.Asn1552Lys) rs376183002
NM_001429.4(EP300):c.4711C>T (p.Pro1571Ser) rs913846956
NM_001429.4(EP300):c.4789G>A (p.Val1597Met)
NM_001429.4(EP300):c.4840GATCCT[1] (p.1614DP[1])
NM_001429.4(EP300):c.4844C>G (p.Pro1615Arg) rs2145512487
NM_001429.4(EP300):c.4880G>A (p.Arg1627Gln)
NM_001429.4(EP300):c.4907A>G (p.Asp1636Gly)
NM_001429.4(EP300):c.4962G>C (p.Met1654Ile)
NM_001429.4(EP300):c.4979C>T (p.Thr1660Met) rs2145513499
NM_001429.4(EP300):c.4999G>C (p.Val1667Leu) rs2059201116
NM_001429.4(EP300):c.5029G>A (p.Val1677Met)
NM_001429.4(EP300):c.5063A>T (p.Asp1688Val)
NM_001429.4(EP300):c.5087A>C (p.Tyr1696Ser) rs2517831884
NM_001429.4(EP300):c.5102A>G (p.His1701Arg)
NM_001429.4(EP300):c.5110A>G (p.Lys1704Glu) rs2145514891
NM_001429.4(EP300):c.5123T>C (p.Leu1708Pro)
NM_001429.4(EP300):c.5155C>G (p.Gln1719Glu)
NM_001429.4(EP300):c.5210G>T (p.Arg1737Leu)
NM_001429.4(EP300):c.5227G>A (p.Val1743Ile)
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp) rs2145515250
NM_001429.4(EP300):c.5267C>T (p.Pro1756Leu)
NM_001429.4(EP300):c.5320A>G (p.Lys1774Glu) rs2517832274
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg) rs2059204658
NM_001429.4(EP300):c.5366G>A (p.Cys1789Tyr) rs2517832360
NM_001429.4(EP300):c.536C>T (p.Ala179Val)
NM_001429.4(EP300):c.5459A>G (p.His1820Arg)
NM_001429.4(EP300):c.5486G>A (p.Arg1829His) rs2145516079
NM_001429.4(EP300):c.5488A>G (p.Arg1830Gly) rs2517832575
NM_001429.4(EP300):c.5509C>T (p.Arg1837Trp) rs1439243688
NM_001429.4(EP300):c.5549C>G (p.Pro1850Arg) rs2145516343
NM_001429.4(EP300):c.5558C>G (p.Ala1853Gly) rs922820001
NM_001429.4(EP300):c.5568_5576del (p.1854TPT[1])
NM_001429.4(EP300):c.5572C>G (p.Pro1858Ala) rs398123610
NM_001429.4(EP300):c.5584C>G (p.Gln1862Glu) rs2145516559
NM_001429.4(EP300):c.5597C>A (p.Pro1866Gln) rs763290593
NM_001429.4(EP300):c.5607_5624del (p.Ser1873_Thr1878del) rs1555912169
NM_001429.4(EP300):c.563C>G (p.Pro188Arg)
NM_001429.4(EP300):c.5653C>T (p.Pro1885Ser) rs2145516958
NM_001429.4(EP300):c.5654C>T (p.Pro1885Leu) rs763093656
NM_001429.4(EP300):c.5671C>G (p.Gln1891Glu) rs2145517044
NM_001429.4(EP300):c.5704G>A (p.Ala1902Thr) rs2145517202
NM_001429.4(EP300):c.5756C>A (p.Pro1919Gln)
NM_001429.4(EP300):c.5813C>T (p.Thr1938Met) rs1236533772
NM_001429.4(EP300):c.5830C>T (p.His1944Tyr)
NM_001429.4(EP300):c.5833G>A (p.Val1945Met) rs774508702
NM_001429.4(EP300):c.5861A>G (p.His1954Arg)
NM_001429.4(EP300):c.6105G>C (p.Gln2035His) rs1441073777
NM_001429.4(EP300):c.6118C>G (p.Pro2040Ala) rs2059211391
NM_001429.4(EP300):c.6136G>A (p.Val2046Met)
NM_001429.4(EP300):c.6172C>T (p.Leu2058Phe)
NM_001429.4(EP300):c.6184_6192del (p.Ser2062_Pro2064del)
NM_001429.4(EP300):c.6185G>A (p.Ser2062Asn) rs375710969
NM_001429.4(EP300):c.6233C>T (p.Pro2078Leu)
NM_001429.4(EP300):c.6274T>G (p.Tyr2092Asp) rs2059212476
NM_001429.4(EP300):c.6370G>T (p.Val2124Phe)
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.6385G>T (p.Ala2129Ser)
NM_001429.4(EP300):c.638G>A (p.Gly213Glu)
NM_001429.4(EP300):c.6449_6460dup (p.Gln2153_Leu2154insProGlnGlnGln)
NM_001429.4(EP300):c.655C>G (p.Leu219Val)
NM_001429.4(EP300):c.6577C>G (p.Gln2193Glu) rs2145521338
NM_001429.4(EP300):c.6659C>T (p.Pro2220Leu) rs555467754
NM_001429.4(EP300):c.6690_6698del (p.His2230_Gln2232del) rs2517835314
NM_001429.4(EP300):c.6697C>G (p.Gln2233Glu) rs2145521936
NM_001429.4(EP300):c.6709G>A (p.Gly2237Arg) rs773772482
NM_001429.4(EP300):c.6718G>A (p.Gly2240Arg) rs2145522007
NM_001429.4(EP300):c.6767G>C (p.Ser2256Thr)
NM_001429.4(EP300):c.6782AGC[1] (p.Gln2262del)
NM_001429.4(EP300):c.6786G>C (p.Gln2262His) rs2059217082
NM_001429.4(EP300):c.6833T>C (p.Met2278Thr) rs2517835551
NM_001429.4(EP300):c.6845A>G (p.Gln2282Arg)
NM_001429.4(EP300):c.6864G>C (p.Gln2288His) rs2145522620
NM_001429.4(EP300):c.6928C>T (p.Pro2310Ser) rs2059218676
NM_001429.4(EP300):c.6964C>T (p.Pro2322Ser)
NM_001429.4(EP300):c.6993G>C (p.Met2331Ile)
NM_001429.4(EP300):c.6998C>G (p.Pro2333Arg) rs750944383
NM_001429.4(EP300):c.7003C>G (p.Pro2335Ala) rs780778684
NM_001429.4(EP300):c.7008_7010del (p.Pro2337del) rs1413664360
NM_001429.4(EP300):c.7049G>C (p.Gly2350Ala) rs764471047
NM_001429.4(EP300):c.7083_7085dup (p.Gly2362_His2363insGly) rs2517836052
NM_001429.4(EP300):c.7193A>T (p.Asp2398Val)
NM_001429.4(EP300):c.730-27_742del
NM_001429.4(EP300):c.746A>T (p.Asn249Ile) rs200732771
NM_001429.4(EP300):c.763T>A (p.Ser255Thr)
NM_001429.4(EP300):c.808C>G (p.Leu270Val) rs550476180

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