ClinVar Miner

List of variants in gene EP300 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96608
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.60742
NM_001429.4(EP300):c.2380-15T>C rs17002316 0.04187
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04072
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02079
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152 0.01700
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01442
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.00998
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00711
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 0.00276
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.1878+9C>G rs186198699 0.00138
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00131
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00071
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00037
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170 0.00016
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00007
NM_001429.4(EP300):c.4482A>G (p.Arg1494=) rs149471059 0.00006
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873 0.00004
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.5601G>A (p.Gln1867=) rs1250353355 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001429.4(EP300):c.*10GTA[1] rs35508493
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3807-4T>G rs1337278789
NM_001429.4(EP300):c.3807-7C>T rs1200883341
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.6177_6185dup (p.Arg2059_Pro2061dup) rs2145519648
NM_001429.4(EP300):c.6820C>G (p.Gln2274Glu) rs1258833321
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001429.4(EP300):c.7041_7046del (p.His2348_Pro2349del) rs2145523559
NM_001429.4(EP300):c.7245G>A (p.Ter2415=) rs587783622
NM_001429.4(EP300):c.730-5C>T rs371539664
NM_001429.4(EP300):c.907-17_907-8del rs797045561

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