ClinVar Miner

List of variants in gene combination CFTR, LOC111674463 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
NG_016465.4:g.18346T>G rs4148682 0.10044
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NC_000007.14:g.117479234del rs4148683
NM_000492.3(CFTR):c.-288G>C rs139688774
NM_000492.3(CFTR):c.-85C>G rs530414231

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.