ClinVar Miner

List of variants in gene CREBBP reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
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.1216+20C>A rs200567815 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
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.7293G>A (p.Thr2431=) rs587783514 0.00006
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val) rs727503892 0.00003
NM_004380.3(CREBBP):c.1331-4A>G rs756291909 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) rs182347573 0.00002
NM_004380.3(CREBBP):c.501C>T (p.Ala167=) rs376613398 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 0.00001
NM_004380.3(CREBBP):c.825A>C (p.Pro275=) rs370509157 0.00001
NM_004380.3(CREBBP):c.1211G>C (p.Cys404Ser) rs587783462
NM_004380.3(CREBBP):c.2463+6G>A rs1555482647
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3889C>T (p.His1297Tyr) rs1057521558
NM_004380.3(CREBBP):c.4062C>G (p.Ala1354=)
NM_004380.3(CREBBP):c.4617T>C (p.Tyr1539=) rs727503891
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=) rs370565083
NM_004380.3(CREBBP):c.6606_6620del (p.Gln2212_Gln2216del) rs1555470941
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6624ACAGCAGCA[1] (p.Gln2214_Gln2216del) rs746989288
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252

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.