ClinVar Miner

List of variants in gene CREBBP reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly) rs149961222 0.00084
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_004380.3(CREBBP):c.5991C>T (p.Pro1997=) rs201101808 0.00019
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 0.00017
NM_004380.3(CREBBP):c.5874G>C (p.Ala1958=) rs373950003 0.00015
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 0.00013
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=) rs377023934 0.00009
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=) rs772392148 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.5922G>A (p.Arg1974=) rs202099897 0.00007
NM_004380.3(CREBBP):c.6465T>G (p.Pro2155=) rs746868061 0.00007
NM_004380.3(CREBBP):c.2364C>T (p.Pro788=) rs201070000 0.00006
NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu) rs139896431 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=) rs539366777 0.00006
NM_004380.3(CREBBP):c.414C>T (p.Ala138=) rs542552676 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.3239C>T (p.Pro1080Leu) rs777713620 0.00004
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu) rs143180774 0.00004
NM_004380.3(CREBBP):c.594T>C (p.Ile198=) rs1376107928 0.00004
NM_004380.3(CREBBP):c.1026A>G (p.Thr342=) rs751666077 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.5958G>A (p.Thr1986=) rs774747147 0.00003
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=) rs763852812 0.00003
NM_004380.3(CREBBP):c.6524A>G (p.Asn2175Ser) rs587778214 0.00003
NM_004380.3(CREBBP):c.675G>A (p.Pro225=) rs140708841 0.00003
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val) rs727503892 0.00003
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865 0.00002
NM_004380.3(CREBBP):c.1924G>A (p.Glu642Lys) rs1376477785 0.00001
NM_004380.3(CREBBP):c.2319G>A (p.Pro773=) rs560358764 0.00001
NM_004380.3(CREBBP):c.3003C>G (p.Thr1001=) rs61731377 0.00001
NM_004380.3(CREBBP):c.3251-3C>T rs1215061668 0.00001
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=) rs190925539 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=) rs777425519 0.00001
NM_004380.3(CREBBP):c.5346G>A (p.Ala1782=) rs533040964 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 0.00001
NM_004380.3(CREBBP):c.5898C>A (p.Ala1966=) rs770870064 0.00001
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=) rs768626011 0.00001
NM_004380.3(CREBBP):c.6141C>T (p.Ala2047=) rs775352905 0.00001
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.144A>G (p.Gly48=)
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
NM_004380.3(CREBBP):c.1521G>A (p.Gln507=)
NM_004380.3(CREBBP):c.1750T>C (p.Ser584Pro)
NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
NM_004380.3(CREBBP):c.2067G>A (p.Gly689=) rs762541030
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.216G>T (p.Glu72Asp)
NM_004380.3(CREBBP):c.2284-4G>C
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2365G>A (p.Ala789Thr)
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2647G>T (p.Ala883Ser) rs1216005413
NM_004380.3(CREBBP):c.2685C>T (p.Ser895=)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.2841A>G (p.Gln947=)
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
NM_004380.3(CREBBP):c.3234G>A (p.Ser1078=)
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
NM_004380.3(CREBBP):c.381T>C (p.Asp127=)
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
NM_004380.3(CREBBP):c.436G>C (p.Ala146Pro)
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
NM_004380.3(CREBBP):c.4569C>T (p.Phe1523=)
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
NM_004380.3(CREBBP):c.4917T>C (p.Ala1639=)
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=) rs375829291
NM_004380.3(CREBBP):c.5148G>A (p.Thr1716=)
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=) rs759268055
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=) rs1567263707
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
NM_004380.3(CREBBP):c.5292C>T (p.Pro1764=) rs1567263591
NM_004380.3(CREBBP):c.5343C>T (p.His1781=)
NM_004380.3(CREBBP):c.5469C>T (p.Ile1823=)
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
NM_004380.3(CREBBP):c.6033C>T (p.Pro2011=) rs763241697
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6402C>T (p.His2134=) rs931899083
NM_004380.3(CREBBP):c.6432C>T (p.Ala2144=)
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met) rs147448293
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
NM_004380.3(CREBBP):c.6542A>G (p.Asn2181Ser)
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
NM_004380.3(CREBBP):c.6607C>G (p.Gln2203Glu)
NM_004380.3(CREBBP):c.6609delinsGCAG (p.Gln2216dup) rs1567260749
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6618_6632del (p.Gln2212_Gln2216del)
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624ACAGCAGCA[3] (p.Gln2216_Gly2217insGlnGlnGln)
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6651G>A (p.Gly2217=)
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1]) rs778220523
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup) rs753283086
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
NM_004380.3(CREBBP):c.699C>T (p.Gly233=)
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
NM_004380.3(CREBBP):c.7314T>C (p.Phe2438=)
NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
NM_004380.3(CREBBP):c.762G>A (p.Ala254=)
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
NM_004380.3(CREBBP):c.793G>A (p.Ala265Thr)
NM_004380.3(CREBBP):c.962A>G (p.Asn321Ser)

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