ClinVar Miner

List of variants in gene EP300 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.3729-94C>T rs118065748 0.03296
NM_001429.4(EP300):c.5062-113dup rs200218093 0.01628
NM_001429.4(EP300):c.4453-191T>C rs78617850 0.01452
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01318
NM_001429.4(EP300):c.95-202G>A rs73426540 0.01318
NM_001429.4(EP300):c.4618-309A>G rs74964740 0.01230
NM_001429.4(EP300):c.3728+55C>G rs116241886 0.01224
NM_001429.4(EP300):c.3142+245A>G rs35350688 0.01111
NM_001429.4(EP300):c.2241+283A>G rs61502017 0.01053
NM_001429.4(EP300):c.1529-147A>G rs17384028 0.01026
NM_001429.4(EP300):c.2817+182G>A rs111972987 0.00933
NM_001429.4(EP300):c.3874+222dup rs140512503 0.00908
NM_001429.4(EP300):c.4779+34G>A rs2076579 0.00786
NM_001429.4(EP300):c.3261+317C>T rs5758248 0.00504
NM_001429.4(EP300):c.1761-70G>T rs181036133 0.00433
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_001429.4(EP300):c.3729-104T>C rs191452616 0.00378
NM_001429.4(EP300):c.4286+202A>G rs574690253 0.00317
NM_001429.4(EP300):c.1623-20T>C rs151092312 0.00288
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001429.4(EP300):c.5061+22G>A rs200873471 0.00026
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492 0.00024
NM_001429.4(EP300):c.1608C>A (p.Ala536=) rs370568560 0.00020
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_001429.4(EP300):c.2242-8T>C rs199931034 0.00018
NM_001429.4(EP300):c.7177C>G (p.Leu2393Val) rs377508897 0.00018
NM_001429.4(EP300):c.4752A>G (p.Leu1584=) rs146147293 0.00016
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458 0.00016
NM_001429.4(EP300):c.6684G>A (p.Gln2228=) rs148504625 0.00016
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg) rs140300789 0.00016
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170 0.00016
NM_001429.4(EP300):c.5565A>G (p.Pro1855=) rs150532830 0.00015
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114 0.00015
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212 0.00015
NM_001429.4(EP300):c.5361C>T (p.Ala1787=) rs200552141 0.00014
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001429.4(EP300):c.2352G>A (p.Pro784=) rs140684440 0.00011
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644 0.00011
NM_001429.4(EP300):c.2668A>C (p.Thr890Pro) rs577396026 0.00010
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00010
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 0.00009
NM_001429.4(EP300):c.5598G>A (p.Pro1866=) rs560633624 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215 0.00009
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367 0.00008
NM_001429.4(EP300):c.6406A>G (p.Met2136Val) rs372874467 0.00007
NM_001429.4(EP300):c.6414G>A (p.Ala2138=) rs374679651 0.00007
NM_001429.4(EP300):c.3377A>G (p.Asn1126Ser) rs777847755 0.00006
NM_001429.4(EP300):c.5568G>A (p.Thr1856=) rs202043101 0.00006
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273 0.00005
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu) rs374162524 0.00005
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873 0.00004
NM_001429.4(EP300):c.3522A>G (p.Thr1174=) rs756748826 0.00004
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661 0.00004
NM_001429.4(EP300):c.6923G>A (p.Arg2308His) rs759647202 0.00004
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345 0.00003
NM_001429.4(EP300):c.4857C>T (p.Ile1619=) rs1021520881 0.00003
NM_001429.4(EP300):c.545A>G (p.Asn182Ser) rs201487387 0.00003
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.6488C>T (p.Pro2163Leu) rs1013716287 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986 0.00002
NM_001429.4(EP300):c.1991T>C (p.Met664Thr) rs547684073 0.00002
NM_001429.4(EP300):c.2766G>A (p.Ala922=) rs370810144 0.00002
NM_001429.4(EP300):c.4566G>A (p.Gln1522=) rs765163038 0.00002
NM_001429.4(EP300):c.5150A>G (p.Asn1717Ser) rs779154669 0.00002
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 0.00002
NM_001429.4(EP300):c.1303G>A (p.Val435Ile) rs779573838 0.00001
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys) rs772407988 0.00001
NM_001429.4(EP300):c.1998A>G (p.Pro666=) rs1451165837 0.00001
NM_001429.4(EP300):c.2062C>T (p.Leu688=) rs767283642 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.451A>G (p.Thr151Ala) rs780440242 0.00001
NM_001429.4(EP300):c.469C>A (p.Pro157Thr) rs748538778 0.00001
NM_001429.4(EP300):c.5052T>C (p.Thr1684=) rs776906521 0.00001
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser) rs1301322622 0.00001
NM_001429.4(EP300):c.5926C>T (p.Pro1976Ser) rs1427345303 0.00001
NM_001429.4(EP300):c.6138G>C (p.Val2046=) rs1194421079 0.00001
NM_001429.4(EP300):c.6281A>G (p.Asn2094Ser) rs757490161 0.00001
NM_001429.4(EP300):c.650A>G (p.Asn217Ser) rs139130083 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001429.4(EP300):c.715C>G (p.Pro239Ala) rs764511770 0.00001
NM_001429.4(EP300):c.825G>A (p.Gln275=) rs149058635 0.00001
NM_001429.4(EP300):c.*6C>T rs544616799
NM_001429.4(EP300):c.1017G>A (p.Gln339=) rs1601604791
NM_001429.4(EP300):c.1215T>C (p.Asn405=) rs1242358857
NM_001429.4(EP300):c.1282+267del rs11388493
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
NM_001429.4(EP300):c.1439T>C (p.Met480Thr) rs1601607143
NM_001429.4(EP300):c.1571C>T (p.Thr524Met) rs1452596865
NM_001429.4(EP300):c.1622+146G>A rs150563866
NM_001429.4(EP300):c.1699A>G (p.Ile567Val)
NM_001429.4(EP300):c.1727C>A (p.Thr576Asn) rs201036817
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
NM_001429.4(EP300):c.2132-87dup rs766424236
NM_001429.4(EP300):c.2232T>G (p.Ala744=)
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2580A>C (p.Pro860=)
NM_001429.4(EP300):c.2634A>G (p.Leu878=) rs1309658711
NM_001429.4(EP300):c.3143-2A>T rs1275921990
NM_001429.4(EP300):c.3143-3A>T rs749597275
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3216C>T (p.Ser1072=)
NM_001429.4(EP300):c.3285C>T (p.Ser1095=) rs971045982
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3576C>T (p.Tyr1192=) rs1159368614
NM_001429.4(EP300):c.3591-189_3591-186del rs372645654
NM_001429.4(EP300):c.3591-202dup rs537593150
NM_001429.4(EP300):c.3933G>A (p.Arg1311=) rs1347207948
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
NM_001429.4(EP300):c.4155C>T (p.Cys1385=)
NM_001429.4(EP300):c.4173-6G>A rs753407510
NM_001429.4(EP300):c.4233T>C (p.Thr1411=)
NM_001429.4(EP300):c.4452+105_4452+108del rs35506286
NM_001429.4(EP300):c.4452+282C>T rs112994812
NM_001429.4(EP300):c.4608A>G (p.Glu1536=)
NM_001429.4(EP300):c.4618-11C>T rs1601636833
NM_001429.4(EP300):c.4687C>T (p.Leu1563=) rs564848230
NM_001429.4(EP300):c.4779+98C>A rs149548576
NM_001429.4(EP300):c.4780-11_4780-8del rs748277415
NM_001429.4(EP300):c.4788T>C (p.Phe1596=) rs1601639129
NM_001429.4(EP300):c.5265G>A (p.Leu1755=)
NM_001429.4(EP300):c.5440C>T (p.Arg1814Trp) rs757325753
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6108A>G (p.Val2036=)
NM_001429.4(EP300):c.6141T>A (p.Ser2047=) rs1254969855
NM_001429.4(EP300):c.6291A>G (p.Pro2097=)
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1]) rs758586599
NM_001429.4(EP300):c.651C>T (p.Asn217=) rs1386790465
NM_001429.4(EP300):c.6600A>G (p.Gly2200=)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6651T>C (p.Val2217=)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.693A>G (p.Gly231=)
NM_001429.4(EP300):c.6954A>G (p.Pro2318=) rs779544216
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
NM_001429.4(EP300):c.7149A>G (p.Ala2383=)

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