ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive congenital cerebellar ataxia by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_033402.5(LRRCC1):c.105-1G>C rs886039794
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln) rs886039810

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.