ClinVar Miner

List of variants reported as uncertain significance for Basal ganglia calcification, idiopathic, 7, autosomal recessive by 3billion

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_020702.5(MYORG):c.1469A>G (p.Tyr490Cys) rs2131878793
NM_020702.5(MYORG):c.1991C>T (p.Pro664Leu) rs771434563
NM_020702.5(MYORG):c.954G>T (p.Trp318Cys)

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.