ClinVar Miner

List of variants in gene CC2D2A studied for COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) rs150093365
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) rs371608031
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842
NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832
NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078

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.