List of variants in gene SCARB2 reported as benign for Progressive myoclonic epilepsy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005506.4(SCARB2):c.1113+14T>A	rs35369082	0.21009
NM_005506.4(SCARB2):c.48G>C (p.Leu16=)	rs72857097	0.04562
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile)	rs2228380	0.02320
NM_005506.4(SCARB2):c.475A>G (p.Met159Val)	rs143655258	0.00858
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln)	rs73826386	0.00619
NM_005506.4(SCARB2):c.1239+14C>T	rs143699909	0.00438
NM_005506.4(SCARB2):c.171T>C (p.Pro57=)	rs199895330	0.00225
NM_005506.4(SCARB2):c.704+16T>C	rs199686576	0.00137
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)	rs35035064	0.00111
NM_005506.4(SCARB2):c.275+20T>C	rs377180838	0.00009
NM_005506.4(SCARB2):c.275+7C>T	rs777137419	0.00003

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.