ClinVar Miner

List of variants in gene CREBBP reported by GeneDx

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Total variants: 58
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HGVS dbSNP
GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3
GRCh38/hg38 16p13.3(chr16:3861794-3904192)x1
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.1216+1312C>T rs1302427305
NM_001079846.1(CREBBP):c.1300A>T (p.Asn434Tyr) rs1064796426
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1855A>G (p.Lys619Glu) rs1131691431
NM_001079846.1(CREBBP):c.1957C>T (p.Gln653Ter) rs1555483689
NM_001079846.1(CREBBP):c.2188C>T (p.Arg730Ter) rs1057520652
NM_001079846.1(CREBBP):c.2349+6G>A rs1555482647
NM_001079846.1(CREBBP):c.2502G>A (p.Thr834=) rs781112420
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.2727dup (p.Gln910fs) rs886041468
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.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.3775C>T (p.His1259Tyr) rs1057521558
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.4244T>C (p.Ile1415Thr) rs1064795050
NM_001079846.1(CREBBP):c.4325A>G (p.Asp1442Gly) rs886041286
NM_001079846.1(CREBBP):c.458C>T (p.Pro153Leu) rs146538907
NM_001079846.1(CREBBP):c.5006G>C (p.Cys1669Ser) rs1064795089
NM_001079846.1(CREBBP):c.5090C>T (p.Thr1697Met) rs1064793090
NM_001079846.1(CREBBP):c.5209T>C (p.Cys1737Arg) rs1057524802
NM_001079846.1(CREBBP):c.5222T>C (p.Leu1741Pro) rs1064796457
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.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.5486G>A (p.Arg1829Gln) rs1131691326
NM_001079846.1(CREBBP):c.5488C>T (p.Arg1830Trp) rs886039491
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.5686T>C (p.Ser1896Pro) rs587783504
NM_001079846.1(CREBBP):c.5819A>G (p.Asn1940Ser) rs112906840
NM_001079846.1(CREBBP):c.5830C>A (p.Pro1944Thr) rs376149838
NM_001079846.1(CREBBP):c.5896C>T (p.Arg1966Ter) rs886039331
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.6127C>T (p.Gln2043Ter) rs886041518
NM_001079846.1(CREBBP):c.6130C>T (p.Gln2044Ter) rs1057518789
NM_001079846.1(CREBBP):c.6223C>A (p.Pro2075Thr) rs1064796746
NM_001079846.1(CREBBP):c.6492_6506del (p.Gln2174_Gln2178del) rs1555470941
NM_001079846.1(CREBBP):c.6510_6518ACAGCAGCA[1] (p.Gln2176_Gln2178del) rs746989288
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.7098A>G (p.Glu2366=) rs55916120
NM_001079846.1(CREBBP):c.760G>A (p.Ala254Thr) rs148781922

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