ClinVar Miner

List of variants in gene CCDC88C reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.1527+128A>G rs1285766 0.98802
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_001080414.4(CCDC88C):c.4630+78G>T rs2277509 0.65846
NM_001080414.4(CCDC88C):c.3966+12G>A rs3742656 0.56935
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) rs1970912 0.56314
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=) rs45437097 0.16963
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
NM_001080414.4(CCDC88C):c.61-85T>C rs1285844

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.