ClinVar Miner

List of variants reported as pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NC_000016.9:g.(?_3777699)_(4852592_?)del
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3830713)_(3831327_?)del
NM_001079846.1(CREBBP):c.1333C>T (p.Arg445Ter) rs1555484797
NM_001079846.1(CREBBP):c.1741dup (p.Ala581fs)
NM_001079846.1(CREBBP):c.1803dup (p.Met602fs) rs1567306142
NM_001079846.1(CREBBP):c.1827+1G>A rs1555483834
NM_001079846.1(CREBBP):c.1891_1892delinsT (p.Lys630_Arg631insTer)
NM_001079846.1(CREBBP):c.2208del (p.Asn736fs)
NM_001079846.1(CREBBP):c.2641C>T (p.Gln881Ter)
NM_001079846.1(CREBBP):c.314_315del (p.Gly105fs)
NM_001079846.1(CREBBP):c.3722+1G>C
NM_001079846.1(CREBBP):c.3863del (p.Ala1288fs) rs1567276741
NM_001079846.1(CREBBP):c.4116dup (p.Gly1373fs) rs1555473668
NM_001079846.1(CREBBP):c.4280G>A (p.Gly1427Glu) rs1555473491
NM_001079846.1(CREBBP):c.4445A>G (p.Lys1482Arg)
NM_001079846.1(CREBBP):c.4528_4529GT[1] (p.Leu1511fs) rs1555472938
NM_001079846.1(CREBBP):c.4549G>T (p.Glu1517Ter) rs1555472931
NM_001079846.1(CREBBP):c.4558C>T (p.Gln1520Ter)
NM_001079846.1(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_001079846.1(CREBBP):c.4900A>T (p.Arg1634Ter) rs1555471874
NM_001079846.1(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_001079846.1(CREBBP):c.5525_5526AG[1] (p.Leu1844fs) rs1567263114
NM_001079846.1(CREBBP):c.5580_5589del (p.Ser1860fs) rs1555471323
NM_001079846.1(CREBBP):c.5742dup (p.Pro1915fs)
NM_004380.2(CREBBP):c.-204_85del rs1567386034

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.