ClinVar Miner

List of variants in gene EP300 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 68
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HGVS dbSNP
NM_001429.3(EP300):c.*13_*15delGTA rs35508493
NM_001429.3(EP300):c.103T>G (p.Ser35Ala) rs546292445
NM_001429.3(EP300):c.1283-8T>C rs76827562
NM_001429.3(EP300):c.1442C>T (p.Pro481Leu)
NM_001429.3(EP300):c.1453C>A (p.Gln485Lys)
NM_001429.3(EP300):c.1572G>A (p.Thr524=) rs746398873
NM_001429.3(EP300):c.1573C>T (p.Pro525Ser) rs886042427
NM_001429.3(EP300):c.1710G>A (p.Gln570=) rs886043092
NM_001429.3(EP300):c.2005A>G (p.Met669Val) rs749541256
NM_001429.3(EP300):c.2053+8G>T rs6002267
NM_001429.3(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.3(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.3(EP300):c.2131+18T>A rs9611506
NM_001429.3(EP300):c.2240C>T (p.Pro747Leu) rs193026103
NM_001429.3(EP300):c.2242-8T>C rs199931034
NM_001429.3(EP300):c.2252A>G (p.Tyr751Cys)
NM_001429.3(EP300):c.2419A>G (p.Ile807Val) rs201054979
NM_001429.3(EP300):c.2499G>A (p.Ser833=) rs35560602
NM_001429.3(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.3(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.3(EP300):c.2787A>G (p.Ala929=) rs143690368
NM_001429.3(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.3(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.3(EP300):c.3063T>C (p.Thr1021=) rs142431552
NM_001429.3(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.3(EP300):c.3143-4delT rs757931697
NM_001429.3(EP300):c.3143-4dupT rs757931697
NM_001429.3(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.3(EP300):c.324C>T (p.Ala108=) rs138876937
NM_001429.3(EP300):c.3330G>T (p.Gln1110His) rs374163115
NM_001429.3(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.3(EP300):c.3591-6C>T rs368437789
NM_001429.3(EP300):c.3671+5_3671+8delGTAA rs886042977
NM_001429.3(EP300):c.4026-17C>A rs2294976
NM_001429.3(EP300):c.4026-7T>C rs187388966
NM_001429.3(EP300):c.4065C>A (p.Tyr1355Ter) rs886043598
NM_001429.3(EP300):c.4347T>C (p.His1449=) rs137986257
NM_001429.3(EP300):c.4452+20C>T rs6002271
NM_001429.3(EP300):c.4618-18C>T rs2076578
NM_001429.3(EP300):c.471A>G (p.Pro157=)
NM_001429.3(EP300):c.4724A>G (p.Asn1575Ser) rs144547088
NM_001429.3(EP300):c.5061+10G>A rs78432056
NM_001429.3(EP300):c.5147G>C (p.Ser1716Thr) rs147676363
NM_001429.3(EP300):c.5172C>A (p.Thr1724=) rs142330184
NM_001429.3(EP300):c.5259C>T (p.Cys1753=) rs148040990
NM_001429.3(EP300):c.5572C>G (p.Pro1858Ala) rs398123610
NM_001429.3(EP300):c.5683C>T (p.Pro1895Ser)
NM_001429.3(EP300):c.569A>G (p.Gln190Arg)
NM_001429.3(EP300):c.5711A>C (p.Gln1904Pro) rs140187237
NM_001429.3(EP300):c.574A>T (p.Met192Leu) rs771650739
NM_001429.3(EP300):c.5814G>A (p.Thr1938=) rs112948044
NM_001429.3(EP300):c.5914A>G (p.Met1972Val) rs373725137
NM_001429.3(EP300):c.5957C>T (p.Pro1986Leu) rs144626200
NM_001429.3(EP300):c.6315C>T (p.Gly2105=) rs528866215
NM_001429.3(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.3(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.3(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.3(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.3(EP300):c.6713A>G (p.Asn2238Ser) rs767335677
NM_001429.3(EP300):c.6729C>T (p.Gly2243=) rs765194008
NM_001429.3(EP300):c.6798_6800delGCA (p.Gln2268del) rs533875300
NM_001429.3(EP300):c.6969C>G (p.Pro2323=) rs111489369
NM_001429.3(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.3(EP300):c.730-18_730-9delTTTGTTTCTT rs61120041
NM_001429.3(EP300):c.739A>G (p.Met247Val) rs147583157
NM_001429.3(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.3(EP300):c.942C>T (p.Gly314=) rs20553
NM_001429.4(EP300):c.2540dup (p.Ser848Lysfs)

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