ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 0.00002
NM_001429.4(EP300):c.169A>G (p.Asn57Asp) rs1186074560 0.00001
NM_001429.4(EP300):c.2078T>C (p.Met693Thr) rs199636064 0.00001
NM_001429.4(EP300):c.302G>A (p.Gly101Asp) rs879722959 0.00001
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188 0.00001
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359 0.00001
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu) rs587778255 0.00001
NM_001429.4(EP300):c.4339A>G (p.Ile1447Val) rs1448116681 0.00001
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser) rs1301322622 0.00001
NM_001429.4(EP300):c.5966T>G (p.Met1989Arg) rs760421892 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001429.4(EP300):c.104C>G (p.Ser35Cys) rs2145696235
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
NM_001429.4(EP300):c.1282C>T (p.Pro428Ser)
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
NM_001429.4(EP300):c.1357C>G (p.Leu453Val)
NM_001429.4(EP300):c.1372C>G (p.Gln458Glu)
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe) rs587778262
NM_001429.4(EP300):c.1420C>T (p.Pro474Ser)
NM_001429.4(EP300):c.1443_1444delinsAC (p.Thr482Pro)
NM_001429.4(EP300):c.1456G>C (p.Val486Leu)
NM_001429.4(EP300):c.1465A>G (p.Lys489Glu)
NM_001429.4(EP300):c.151A>G (p.Thr51Ala)
NM_001429.4(EP300):c.1553G>A (p.Gly518Glu)
NM_001429.4(EP300):c.1553G>C (p.Gly518Ala)
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro) rs587778263
NM_001429.4(EP300):c.1663C>T (p.Pro555Ser)
NM_001429.4(EP300):c.1672A>T (p.Thr558Ser) rs1057519397
NM_001429.4(EP300):c.1673C>G (p.Thr558Arg)
NM_001429.4(EP300):c.1681C>G (p.Gln561Glu)
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
NM_001429.4(EP300):c.1761C>T (p.Leu587=)
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp)
NM_001429.4(EP300):c.189G>C (p.Gln63His)
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.1996C>T (p.Pro666Ser)
NM_001429.4(EP300):c.2023A>G (p.Met675Val)
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg)
NM_001429.4(EP300):c.2052T>G (p.Ser684=)
NM_001429.4(EP300):c.2053+5G>C
NM_001429.4(EP300):c.2104A>G (p.Met702Val)
NM_001429.4(EP300):c.2122C>A (p.Pro708Thr)
NM_001429.4(EP300):c.2167C>A (p.Pro723Thr)
NM_001429.4(EP300):c.2188A>G (p.Thr730Ala)
NM_001429.4(EP300):c.2191C>T (p.Pro731Ser)
NM_001429.4(EP300):c.2203C>T (p.His735Tyr)
NM_001429.4(EP300):c.2261G>A (p.Arg754His) rs544338126
NM_001429.4(EP300):c.2261G>C (p.Arg754Pro)
NM_001429.4(EP300):c.2261G>T (p.Arg754Leu)
NM_001429.4(EP300):c.2279A>T (p.Asn760Ile)
NM_001429.4(EP300):c.2302A>G (p.Thr768Ala)
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu)
NM_001429.4(EP300):c.2507C>T (p.Pro836Leu)
NM_001429.4(EP300):c.2539C>G (p.Pro847Ala)
NM_001429.4(EP300):c.2548G>T (p.Gly850Trp)
NM_001429.4(EP300):c.2567CAA[2] (p.Thr858del)
NM_001429.4(EP300):c.2567CAA[4] (p.Thr858_Ile859insThr)
NM_001429.4(EP300):c.2591C>T (p.Pro864Leu)
NM_001429.4(EP300):c.2641C>T (p.Pro881Ser)
NM_001429.4(EP300):c.2647A>G (p.Arg883Gly) rs2059034589
NM_001429.4(EP300):c.2657C>G (p.Pro886Arg)
NM_001429.4(EP300):c.2720C>T (p.Ala907Val)
NM_001429.4(EP300):c.28C>T (p.Pro10Ser) rs2145665490
NM_001429.4(EP300):c.3143-3A>T rs749597275
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser) rs2059069019
NM_001429.4(EP300):c.320A>G (p.Gln107Arg)
NM_001429.4(EP300):c.3261+3A>G
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
NM_001429.4(EP300):c.3458T>A (p.Ile1153Asn)
NM_001429.4(EP300):c.3464C>T (p.Pro1155Leu)
NM_001429.4(EP300):c.3553A>G (p.Ile1185Val)
NM_001429.4(EP300):c.3568A>G (p.Thr1190Ala)
NM_001429.4(EP300):c.3590+4A>T
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3625C>G (p.Gln1209Glu)
NM_001429.4(EP300):c.3686A>G (p.Glu1229Gly)
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln)
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu)
NM_001429.4(EP300):c.3800CTG[1] (p.Ala1268del)
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
NM_001429.4(EP300):c.4009C>T (p.Pro1337Ser) rs2145762914
NM_001429.4(EP300):c.4019A>G (p.Lys1340Arg)
NM_001429.4(EP300):c.4020A>T (p.Lys1340Asn)
NM_001429.4(EP300):c.4044G>T (p.Glu1348Asp)
NM_001429.4(EP300):c.4067G>C (p.Arg1356Pro)
NM_001429.4(EP300):c.4070C>A (p.Thr1357Asn)
NM_001429.4(EP300):c.4172+5del
NM_001429.4(EP300):c.4186T>C (p.Ser1396Pro)
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr)
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4357C>A (p.Pro1453Thr)
NM_001429.4(EP300):c.4360G>C (p.Asp1454His)
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
NM_001429.4(EP300):c.4452+20_4452+21delinsTT
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly)
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4564_4572del (p.Gln1522_Glu1524del)
NM_001429.4(EP300):c.4618-18_4618-17delinsTC
NM_001429.4(EP300):c.4653G>T (p.Lys1551Asn)
NM_001429.4(EP300):c.4723A>G (p.Asn1575Asp)
NM_001429.4(EP300):c.4735G>T (p.Asp1579Tyr)
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser) rs1480723806
NM_001429.4(EP300):c.4829C>T (p.Pro1610Leu)
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met)
NM_001429.4(EP300):c.4923C>G (p.Phe1641Leu)
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
NM_001429.4(EP300):c.494T>C (p.Met165Thr)
NM_001429.4(EP300):c.4960A>C (p.Met1654Leu)
NM_001429.4(EP300):c.4960A>G (p.Met1654Val)
NM_001429.4(EP300):c.4994G>A (p.Arg1665His) rs1601639332
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu)
NM_001429.4(EP300):c.5062-3T>C
NM_001429.4(EP300):c.5153A>T (p.Asn1718Ile)
NM_001429.4(EP300):c.5210G>A (p.Arg1737His)
NM_001429.4(EP300):c.521A>G (p.Asn174Ser)
NM_001429.4(EP300):c.5231A>G (p.His1744Arg)
NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln)
NM_001429.4(EP300):c.529A>G (p.Met177Val)
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg)
NM_001429.4(EP300):c.5411C>T (p.Pro1804Leu)
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5441G>T (p.Arg1814Leu)
NM_001429.4(EP300):c.5472G>C (p.Gln1824His)
NM_001429.4(EP300):c.5532A>C (p.Gln1844His)
NM_001429.4(EP300):c.5546C>T (p.Ser1849Phe)
NM_001429.4(EP300):c.5556_5564del (p.Ala1853_Pro1855del) rs1555912151
NM_001429.4(EP300):c.5558C>G (p.Ala1853Gly)
NM_001429.4(EP300):c.5560A>C (p.Thr1854Pro)
NM_001429.4(EP300):c.5587C>G (p.Pro1863Ala)
NM_001429.4(EP300):c.5602A>T (p.Thr1868Ser)
NM_001429.4(EP300):c.5620CAGCCT[1] (p.1874QP[1])
NM_001429.4(EP300):c.5665A>G (p.Arg1889Gly)
NM_001429.4(EP300):c.5678C>T (p.Ala1893Val)
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val)
NM_001429.4(EP300):c.5807C>T (p.Ala1936Val) rs1301825643
NM_001429.4(EP300):c.5858A>G (p.Gln1953Arg)
NM_001429.4(EP300):c.5866A>G (p.Met1956Val)
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp)
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp)
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val)
NM_001429.4(EP300):c.6131G>A (p.Gly2044Asp)
NM_001429.4(EP300):c.6142CAA[1] (p.Gln2049del)
NM_001429.4(EP300):c.6148G>C (p.Ala2050Pro)
NM_001429.4(EP300):c.6204A>C (p.Gln2068His)
NM_001429.4(EP300):c.6245C>G (p.Ala2082Gly)
NM_001429.4(EP300):c.6287A>G (p.Asn2096Ser) rs1762014323
NM_001429.4(EP300):c.6303_6323del (p.Met2106_Gly2112del)
NM_001429.4(EP300):c.6312_6332del (p.Met2106_Gly2112del) rs755425119
NM_001429.4(EP300):c.6323A>C (p.Gln2108Pro)
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.6394A>G (p.Asn2132Asp)
NM_001429.4(EP300):c.6402T>G (p.Asn2134Lys)
NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)
NM_001429.4(EP300):c.6448C>A (p.Pro2150Thr)
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1]) rs758586599
NM_001429.4(EP300):c.6467C>T (p.Pro2156Leu)
NM_001429.4(EP300):c.6472A>G (p.Met2158Val)
NM_001429.4(EP300):c.6509T>C (p.Met2170Thr)
NM_001429.4(EP300):c.6520A>G (p.Thr2174Ala) rs5758252
NM_001429.4(EP300):c.6523A>G (p.Met2175Val)
NM_001429.4(EP300):c.6533A>G (p.Gln2178Arg)
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala)
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr)
NM_001429.4(EP300):c.6707A>G (p.Gln2236Arg)
NM_001429.4(EP300):c.6747G>C (p.Leu2249Phe)
NM_001429.4(EP300):c.6749G>T (p.Gly2250Val)
NM_001429.4(EP300):c.6782A>G (p.Gln2261Arg)
NM_001429.4(EP300):c.6805A>T (p.Met2269Leu)
NM_001429.4(EP300):c.6896T>A (p.Ile2299Asn)
NM_001429.4(EP300):c.6973_6975dup (p.Ser2326_Pro2327insSer)
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly)
NM_001429.4(EP300):c.7054G>A (p.Val2352Ile)
NM_001429.4(EP300):c.7064A>G (p.Gln2355Arg)
NM_001429.4(EP300):c.706T>A (p.Leu236Met)
NM_001429.4(EP300):c.7070_7096dup (p.Asn2357_Ala2365dup) rs2059220245
NM_001429.4(EP300):c.7109A>G (p.Asn2370Ser)
NM_001429.4(EP300):c.7121C>T (p.Ser2374Phe)
NM_001429.4(EP300):c.7131dup (p.Ser2378Ter)
NM_001429.4(EP300):c.7135A>G (p.Asn2379Asp)
NM_001429.4(EP300):c.7138C>T (p.Pro2380Ser)
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) rs752065194
NM_001429.4(EP300):c.7183C>G (p.Leu2395Val)
NM_001429.4(EP300):c.7186A>C (p.Ser2396Arg)
NM_001429.4(EP300):c.7189A>C (p.Thr2397Pro)
NM_001429.4(EP300):c.721C>T (p.Pro241Ser)
NM_001429.4(EP300):c.7241_7242dup (p.Ter2415ThrextTer?) rs1329239009
NM_001429.4(EP300):c.734G>A (p.Gly245Glu)
NM_001429.4(EP300):c.742A>C (p.Asn248His)
NM_001429.4(EP300):c.746A>T (p.Asn249Ile) rs200732771
NM_001429.4(EP300):c.887G>T (p.Gly296Val)
NM_001429.4(EP300):c.898C>T (p.Pro300Ser)
NM_001429.4(EP300):c.901A>G (p.Asn301Asp)
NM_001429.4(EP300):c.941G>A (p.Gly314Asp)
NM_001429.4(EP300):c.95-3T>C
NM_001429.4(EP300):c.952C>T (p.Pro318Ser)
NM_001429.4(EP300):c.991G>A (p.Asp331Asn)
NM_001429.4(EP300):c.9G>T (p.Glu3Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.