ClinVar Miner

List of variants in gene EP300 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00718
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
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.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761 0.00150
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00142
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
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.1686A>C (p.Pro562=) rs144993798 0.00111
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00101
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
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.6951G>A (p.Arg2317=) rs139551099 0.00035
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.324C>T (p.Ala108=) rs138876937 0.00020
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_001429.4(EP300):c.7177C>G (p.Leu2393Val) rs377508897 0.00018
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
NM_001429.4(EP300):c.4752A>G (p.Leu1584=) rs146147293 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
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.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644 0.00011
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00010
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367 0.00008
NM_001429.4(EP300):c.5832C>T (p.His1944=) rs142885571 0.00007
NM_001429.4(EP300):c.6414G>A (p.Ala2138=) rs374679651 0.00007
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_001429.4(EP300):c.2201A>G (p.Gln734Arg) rs779657418 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.2572A>G (p.Thr858Ala) rs201030855 0.00003
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 0.00003
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 0.00003
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 0.00002
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.1303G>A (p.Val435Ile) rs779573838 0.00001
NM_001429.4(EP300):c.2503G>A (p.Val835Ile) rs1569107347 0.00001
NM_001429.4(EP300):c.4532A>G (p.Asn1511Ser) rs763860567 0.00001
NM_001429.4(EP300):c.536C>G (p.Ala179Gly) rs1064797288 0.00001
NM_001429.4(EP300):c.5709C>T (p.Gly1903=) rs200728751 0.00001
NM_001429.4(EP300):c.5966T>G (p.Met1989Arg) rs760421892 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.7105C>A (p.Gln2369Lys) rs1163407374 0.00001
NM_001429.4(EP300):c.*47_*49del
NM_001429.4(EP300):c.1157A>G (p.Lys386Arg)
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter) rs1555907286
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
NM_001429.4(EP300):c.1355A>T (p.Asn452Ile)
NM_001429.4(EP300):c.1571C>T (p.Thr524Met) rs1452596865
NM_001429.4(EP300):c.1727C>A (p.Thr576Asn) rs201036817
NM_001429.4(EP300):c.1784C>T (p.Pro595Leu) rs886057557
NM_001429.4(EP300):c.191T>C (p.Leu64Pro)
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
NM_001429.4(EP300):c.2224C>G (p.Pro742Ala)
NM_001429.4(EP300):c.2232T>G (p.Ala744=)
NM_001429.4(EP300):c.2279A>T (p.Asn760Ile)
NM_001429.4(EP300):c.2305C>T (p.Gln769Ter) rs2145735938
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2358C>T (p.Ser786=)
NM_001429.4(EP300):c.2406G>A (p.Pro802=)
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
NM_001429.4(EP300):c.2580A>C (p.Pro860=)
NM_001429.4(EP300):c.3216C>T (p.Ser1072=)
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3355G>A (p.Asp1119Asn)
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
NM_001429.4(EP300):c.3428C>G (p.Ser1143Cys) rs2059082907
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3747G>C (p.Glu1249Asp)
NM_001429.4(EP300):c.3810C>T (p.Phe1270=)
NM_001429.4(EP300):c.3815G>C (p.Cys1272Ser)
NM_001429.4(EP300):c.3818A>G (p.Asp1273Gly) rs2145759316
NM_001429.4(EP300):c.3852A>G (p.Lys1284=)
NM_001429.4(EP300):c.3913C>T (p.Arg1305Cys) rs1555911073
NM_001429.4(EP300):c.394A>T (p.Thr132Ser)
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
NM_001429.4(EP300):c.4118T>G (p.Phe1373Cys)
NM_001429.4(EP300):c.4155C>T (p.Cys1385=)
NM_001429.4(EP300):c.4213del (p.Arg1405fs)
NM_001429.4(EP300):c.4233T>C (p.Thr1411=)
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr)
NM_001429.4(EP300):c.4301A>T (p.His1434Leu)
NM_001429.4(EP300):c.4558C>G (p.Leu1520Val)
NM_001429.4(EP300):c.457A>G (p.Met153Val)
NM_001429.4(EP300):c.4608A>G (p.Glu1536=)
NM_001429.4(EP300):c.4731T>G (p.Ser1577=)
NM_001429.4(EP300):c.4742C>T (p.Ser1581Leu)
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4953C>T (p.Thr1651=)
NM_001429.4(EP300):c.5015A>G (p.Glu1672Gly)
NM_001429.4(EP300):c.5095A>G (p.Lys1699Glu) rs2059203421
NM_001429.4(EP300):c.5265G>A (p.Leu1755=)
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro) rs1569120903
NM_001429.4(EP300):c.5477A>C (p.Gln1826Pro) rs2145516037
NM_001429.4(EP300):c.5485C>T (p.Arg1829Cys) rs2145516075
NM_001429.4(EP300):c.5550C>A (p.Pro1850=)
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.5564C>T (p.Pro1855Leu)
NM_001429.4(EP300):c.5632A>G (p.Thr1878Ala)
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
NM_001429.4(EP300):c.580G>A (p.Gly194Ser)
NM_001429.4(EP300):c.5873del (p.Pro1958fs) rs2145518271
NM_001429.4(EP300):c.5879C>T (p.Thr1960Ile)
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
NM_001429.4(EP300):c.598C>G (p.Arg200Gly)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6097T>C (p.Leu2033=)
NM_001429.4(EP300):c.6108A>G (p.Val2036=)
NM_001429.4(EP300):c.6261G>C (p.Gln2087His) rs767446483
NM_001429.4(EP300):c.6291A>G (p.Pro2097=)
NM_001429.4(EP300):c.6342G>A (p.Gln2114=)
NM_001429.4(EP300):c.6389T>C (p.Met2130Thr) rs1299853803
NM_001429.4(EP300):c.651C>T (p.Asn217=) rs1386790465
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.6600A>G (p.Gly2200=)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6644A>G (p.Gln2215Arg)
NM_001429.4(EP300):c.6723G>C (p.Gln2241His)
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
NM_001429.4(EP300):c.6920T>C (p.Val2307Ala)
NM_001429.4(EP300):c.693A>G (p.Gly231=)
NM_001429.4(EP300):c.6948A>G (p.Pro2316=)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
NM_001429.4(EP300):c.7072C>G (p.Pro2358Ala) rs1569122827
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
NM_001429.4(EP300):c.7149A>G (p.Ala2383=)
NM_001429.4(EP300):c.7157A>G (p.His2386Arg)
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
NM_001429.4(EP300):c.7186A>G (p.Ser2396Gly)
NM_001429.4(EP300):c.749C>G (p.Pro250Arg) rs2058879222
NM_001429.4(EP300):c.985A>G (p.Thr329Ala) rs2145710174

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