List of variants in gene SPG11 reported as likely benign by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)	rs115970214	0.00950
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)	rs76389165	0.00694
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly)	rs75430389	0.00523
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn)	rs150218102	0.00449
NM_025137.4(SPG11):c.258-6del	rs373234269

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.