ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance for not provided

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Total variants: 89
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HGVS dbSNP
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+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.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.1998A>G (p.Pro666=) rs398124142
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.252A>G (p.Pro84=) rs727503893
NM_001079846.1(CREBBP):c.2581C>G (p.Pro861Ala) rs1186080322
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.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.3279T>A (p.Asn1093Lys) rs1131691779
NM_001079846.1(CREBBP):c.3445C>G (p.Gln1149Glu) rs1311122629
NM_001079846.1(CREBBP):c.3815A>G (p.Asn1272Ser) rs558051943
NM_001079846.1(CREBBP):c.3868+10G>A rs370093745
NM_001079846.1(CREBBP):c.3871C>T (p.Leu1291=) rs149055008
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.4307G>A (p.Cys1436Tyr) rs886042251
NM_001079846.1(CREBBP):c.4345C>T (p.His1449Tyr) rs1057519207
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.4974C>A (p.His1658Gln) rs1567265249
NM_001079846.1(CREBBP):c.497C>A (p.Pro166His) rs374119348
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.5220G>A (p.Ser1740=) rs201062642
NM_001079846.1(CREBBP):c.5230G>A (p.Ala1744Thr) rs1567263529
NM_001079846.1(CREBBP):c.5247C>T (p.Asn1749=) rs375462934
NM_001079846.1(CREBBP):c.5403C>T (p.Pro1801=) rs760307939
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.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.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.5976G>A (p.Gln1992=) rs374969185
NM_001079846.1(CREBBP):c.6114G>A (p.Ser2038=)
NM_001079846.1(CREBBP):c.6115C>T (p.Pro2039Ser) rs1193973836
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.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.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_004380.2(CREBBP):c.1331-12_1331-9delTTGT rs765955245

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