ClinVar Miner

List of variants in gene CREBBP studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
Download table as spreadsheet
HGVS dbSNP
NM_001079846.1(CREBBP):c.1100G>T (p.Cys367Phe) rs1057518498
NM_001079846.1(CREBBP):c.1132C>T (p.Arg378Trp) rs1064796292
NM_001079846.1(CREBBP):c.1144C>G (p.Leu382Val) rs1555486736
NM_001079846.1(CREBBP):c.1216+1312C>T rs1302427305
NM_001079846.1(CREBBP):c.1216+1350T>C rs758886547
NM_001079846.1(CREBBP):c.1255A>G (p.Ile419Val) rs369459749
NM_001079846.1(CREBBP):c.1300A>T (p.Asn434Tyr) rs1064796426
NM_001079846.1(CREBBP):c.1406A>G (p.Gln469Arg)
NM_001079846.1(CREBBP):c.1504C>A (p.Gln502Lys) rs398124138
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1555del (p.Ala519fs) rs398124139
NM_001079846.1(CREBBP):c.1595A>G (p.Asn532Ser) rs1555484350
NM_001079846.1(CREBBP):c.1618C>T (p.Pro540Ser) rs148023511
NM_001079846.1(CREBBP):c.1820_1822del (p.Asn607del) rs398124140
NM_001079846.1(CREBBP):c.1855A>G (p.Lys619Glu) rs1131691431
NM_001079846.1(CREBBP):c.1914A>G (p.Gln638=) rs886042429
NM_001079846.1(CREBBP):c.1920C>T (p.Ile640=) rs398124141
NM_001079846.1(CREBBP):c.1957C>T (p.Gln653Ter) rs1555483689
NM_001079846.1(CREBBP):c.1998A>G (p.Pro666=) rs398124142
NM_001079846.1(CREBBP):c.2188C>T (p.Arg730Ter) rs1057520652
NM_001079846.1(CREBBP):c.2198A>G (p.Gln733Arg) rs147805823
NM_001079846.1(CREBBP):c.224G>A (p.Arg75Gln) rs794727273
NM_001079846.1(CREBBP):c.2285C>T (p.Pro762Leu) rs371771785
NM_001079846.1(CREBBP):c.2301G>A (p.Ala767=) rs368664039
NM_001079846.1(CREBBP):c.2412G>A (p.Gln804=) rs141775567
NM_001079846.1(CREBBP):c.2456C>T (p.Pro819Leu) rs766086544
NM_001079846.1(CREBBP):c.2458C>T (p.Pro820Ser) rs145733598
NM_001079846.1(CREBBP):c.252A>G (p.Pro84=) rs727503893
NM_001079846.1(CREBBP):c.2545C>T (p.Gln849Ter) rs1057520589
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2571del (p.Gln859fs) rs794727124
NM_001079846.1(CREBBP):c.2581C>G (p.Pro861Ala) rs1186080322
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.2621C>T (p.Thr874Ile) rs1567299077
NM_001079846.1(CREBBP):c.2697G>A (p.Pro899=) rs146168040
NM_001079846.1(CREBBP):c.271G>T (p.Ala91Ser) rs200673670
NM_001079846.1(CREBBP):c.2727dup (p.Gln910fs) rs886041468
NM_001079846.1(CREBBP):c.2736G>A (p.Thr912=) rs141651423
NM_001079846.1(CREBBP):c.2746G>A (p.Ala916Thr)
NM_001079846.1(CREBBP):c.2789T>C (p.Ile930Thr) rs147795744
NM_001079846.1(CREBBP):c.2829A>G (p.Ala943=)
NM_001079846.1(CREBBP):c.2836A>T (p.Asn946Tyr) rs140406003
NM_001079846.1(CREBBP):c.2863C>T (p.Pro955Ser) rs886042430
NM_001079846.1(CREBBP):c.2946+10G>A rs398124143
NM_001079846.1(CREBBP):c.2975C>T (p.Ser992Phe) rs757051244
NM_001079846.1(CREBBP):c.3028G>C (p.Val1010Leu) rs1210983463
NM_001079846.1(CREBBP):c.3078G>C (p.Glu1026Asp) rs1064794818
NM_001079846.1(CREBBP):c.3223C>T (p.Gln1075Ter) rs398124144
NM_001079846.1(CREBBP):c.3227del (p.Pro1076fs) rs1057520072
NM_001079846.1(CREBBP):c.3279T>A (p.Asn1093Lys) rs1131691779
NM_001079846.1(CREBBP):c.3445C>G (p.Gln1149Glu) rs1311122629
NM_001079846.1(CREBBP):c.3495+1G>A rs886041879
NM_001079846.1(CREBBP):c.3629A>T (p.Asn1210Ile) rs1555476935
NM_001079846.1(CREBBP):c.3665+1G>A rs587783483
NM_001079846.1(CREBBP):c.3718G>A (p.Glu1240Lys) rs267606752
NM_001079846.1(CREBBP):c.3815A>G (p.Asn1272Ser) rs558051943
NM_001079846.1(CREBBP):c.383C>G (p.Ser128Cys) rs55790011
NM_001079846.1(CREBBP):c.3868+10G>A rs370093745
NM_001079846.1(CREBBP):c.3868+1G>A rs398124145
NM_001079846.1(CREBBP):c.3871C>T (p.Leu1291=) rs149055008
NM_001079846.1(CREBBP):c.3879del (p.Thr1294fs) rs794727391
NM_001079846.1(CREBBP):c.3930_3943del (p.Gln1311fs) rs1555473890
NM_001079846.1(CREBBP):c.4070C>A (p.Ala1357Asp) rs1064796948
NM_001079846.1(CREBBP):c.4099G>A (p.Val1367Met)
NM_001079846.1(CREBBP):c.4152C>A (p.Pro1384=) rs794727402
NM_001079846.1(CREBBP):c.4165A>G (p.Arg1389Gly) rs794727401
NM_001079846.1(CREBBP):c.4166+8T>C rs376814421
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.423T>G (p.Ser141=) rs760605470
NM_001079846.1(CREBBP):c.4244T>C (p.Ile1415Thr) rs1064795050
NM_001079846.1(CREBBP):c.4307G>A (p.Cys1436Tyr) rs886042251
NM_001079846.1(CREBBP):c.4325A>G (p.Asp1442Gly) rs886041286
NM_001079846.1(CREBBP):c.4345C>T (p.His1449Tyr) rs1057519207
NM_001079846.1(CREBBP):c.4367C>G (p.Pro1456Arg) rs398124147
NM_001079846.1(CREBBP):c.4395C>G (p.Tyr1465Ter) rs1555473105
NM_001079846.1(CREBBP):c.4406T>C (p.Leu1469Pro) rs1057520191
NM_001079846.1(CREBBP):c.4514A>G (p.Asp1505Gly) rs886042424
NM_001079846.1(CREBBP):c.4560A>G (p.Gln1520=)
NM_001079846.1(CREBBP):c.4615-14G>A rs130008
NM_001079846.1(CREBBP):c.4776+2T>C rs786205495
NM_001079846.1(CREBBP):c.4974C>A (p.His1658Gln) rs1567265249
NM_001079846.1(CREBBP):c.497C>A (p.Pro166His) rs374119348
NM_001079846.1(CREBBP):c.5006G>C (p.Cys1669Ser) rs1064795089
NM_001079846.1(CREBBP):c.504G>A (p.Thr168=) rs373310969
NM_001079846.1(CREBBP):c.5054G>A (p.Cys1685Tyr) rs794727535
NM_001079846.1(CREBBP):c.5105A>G (p.His1702Arg) rs1567263724
NM_001079846.1(CREBBP):c.5209T>C (p.Cys1737Arg) rs1057524802
NM_001079846.1(CREBBP):c.5220G>A (p.Ser1740=) rs201062642
NM_001079846.1(CREBBP):c.5222T>C (p.Leu1741Pro) rs1064796457
NM_001079846.1(CREBBP):c.5230G>A (p.Ala1744Thr) rs1567263529
NM_001079846.1(CREBBP):c.5242C>T (p.Arg1748Cys) rs1555471394
NM_001079846.1(CREBBP):c.5247C>T (p.Asn1749=) rs375462934
NM_001079846.1(CREBBP):c.5247_5318del (p.Asn1749_Arg1772del) rs1555471385
NM_001079846.1(CREBBP):c.5248G>A (p.Ala1750Thr) rs1064795794
NM_001079846.1(CREBBP):c.5252A>C (p.Asn1751Thr) rs1064794963
NM_001079846.1(CREBBP):c.5403C>T (p.Pro1801=) rs760307939
NM_001079846.1(CREBBP):c.5437C>T (p.Arg1813Cys) rs763253161
NM_001079846.1(CREBBP):c.5449_5469dup (p.Ile1817_Gln1823dup) rs1555471355
NM_001079846.1(CREBBP):c.5456A>C (p.His1819Pro) rs1064795628
NM_001079846.1(CREBBP):c.5483G>A (p.Arg1828His) rs886043017
NM_001079846.1(CREBBP):c.5485C>G (p.Arg1829Gly) rs398124148
NM_001079846.1(CREBBP):c.5486G>A (p.Arg1829Gln) rs1131691326
NM_001079846.1(CREBBP):c.5488C>T (p.Arg1830Trp) rs886039491
NM_001079846.1(CREBBP):c.5489G>A (p.Arg1830Gln) rs1567263168
NM_001079846.1(CREBBP):c.5500A>G (p.Met1834Val) rs797045037
NM_001079846.1(CREBBP):c.5509del (p.Arg1837fs) rs1064796056
NM_001079846.1(CREBBP):c.5553dup (p.Pro1852fs) rs1555471336
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.5633T>C (p.Met1878Thr) rs559294915
NM_001079846.1(CREBBP):c.5686T>C (p.Ser1896Pro) rs587783504
NM_001079846.1(CREBBP):c.5715G>A (p.Pro1905=) rs546554430
NM_001079846.1(CREBBP):c.5716dup (p.Ala1906fs) rs1567262786
NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.5729C>T (p.Pro1910Leu) rs557611780
NM_001079846.1(CREBBP):c.5830C>A (p.Pro1944Thr) rs376149838
NM_001079846.1(CREBBP):c.5855_5863del (p.Thr1952_Gly1954del) rs777318563
NM_001079846.1(CREBBP):c.586A>G (p.Ser196Gly) rs794727274
NM_001079846.1(CREBBP):c.5892G>T (p.Val1964=)
NM_001079846.1(CREBBP):c.5896C>T (p.Arg1966Ter) rs886039331
NM_001079846.1(CREBBP):c.5976G>A (p.Gln1992=) rs374969185
NM_001079846.1(CREBBP):c.6079_6085dup (p.Leu2029fs) rs1131691988
NM_001079846.1(CREBBP):c.6106del (p.Thr2035_Leu2036insTer) rs1555471086
NM_001079846.1(CREBBP):c.6114G>A (p.Ser2038=)
NM_001079846.1(CREBBP):c.6115C>T (p.Pro2039Ser) rs1193973836
NM_001079846.1(CREBBP):c.6127C>T (p.Gln2043Ter) rs886041518
NM_001079846.1(CREBBP):c.6130C>T (p.Gln2044Ter) rs1057518789
NM_001079846.1(CREBBP):c.6215C>A (p.Ala2072Asp) rs1407363475
NM_001079846.1(CREBBP):c.6223C>A (p.Pro2075Thr) rs1064796746
NM_001079846.1(CREBBP):c.6226G>A (p.Gly2076Ser) rs139169188
NM_001079846.1(CREBBP):c.6338G>C (p.Arg2113Pro) rs749783719
NM_001079846.1(CREBBP):c.6402C>T (p.Asn2134=) rs763852812
NM_001079846.1(CREBBP):c.6436A>G (p.Ser2146Gly) rs398124149
NM_001079846.1(CREBBP):c.6480_6482GCA[4] (p.Gln2178del) rs746121736
NM_001079846.1(CREBBP):c.6547A>C (p.Met2183Leu) rs200716582
NM_001079846.1(CREBBP):c.6552_6563del (p.2182_2185GMAG[1]) rs778220523
NM_001079846.1(CREBBP):c.6564G>A (p.Ala2188=) rs750845399
NM_001079846.1(CREBBP):c.6571G>A (p.Gly2191Ser) rs139688311
NM_001079846.1(CREBBP):c.6586C>T (p.Pro2196Ser) rs759823393
NM_001079846.1(CREBBP):c.6632G>A (p.Arg2211His) rs794727551
NM_001079846.1(CREBBP):c.6767G>A (p.Arg2256Gln) rs1064793091
NM_001079846.1(CREBBP):c.6874C>T (p.Leu2292Phe) rs1064796531
NM_001079846.1(CREBBP):c.6949C>T (p.Gln2317Ter) rs1179308620
NM_001079846.1(CREBBP):c.7011C>T (p.His2337=) rs746116315
NM_001079846.1(CREBBP):c.711C>T (p.Ser237=) rs146049063
NM_001079846.1(CREBBP):c.886dup (p.Gln296fs) rs1567331357
NM_001079846.1(CREBBP):c.907A>G (p.Met303Val) rs1567331335
NM_001079846.1(CREBBP):c.910del (p.Val304fs) rs398124150
NM_004380.2(CREBBP):c.1331-12_1331-9delTTGT rs765955245

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.