ClinVar Miner

List of variants in gene GBA2 reported as benign for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020944.3(GBA2):c.1688-10_1688-9insG rs3833700 0.68762
NM_020944.3(GBA2):c.33C>T (p.Thr11=) rs34312177 0.06991
NM_020944.3(GBA2):c.1795+7G>A rs73438754 0.03415
NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser) rs79325774 0.01424
NM_020944.3(GBA2):c.946G>A (p.Gly316Arg) rs113785628 0.00736
NM_020944.3(GBA2):c.786+6G>C rs28584995 0.00732
NM_020944.3(GBA2):c.1037C>T (p.Thr346Met) rs34353044 0.00613
NM_020944.3(GBA2):c.1146G>A (p.Thr382=) rs144060698 0.00126
NM_020944.3(GBA2):c.1358C>A (p.Ala453Glu) rs78197987 0.00075
NM_020944.3(GBA2):c.1582+14G>A rs375641704 0.00039
NM_020944.3(GBA2):c.1395G>A (p.Pro465=) rs149501146 0.00027
NM_020944.3(GBA2):c.2367C>T (p.Asn789=) rs143345363 0.00020
NM_020944.3(GBA2):c.1129+11del
NM_020944.3(GBA2):c.1560C>T (p.Tyr520=)
NM_020944.3(GBA2):c.2313+7GAG[5] rs200851781

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.