List of variants reported as likely benign for Hereditary spastic paraplegia 11 by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)	rs80338869	0.02054
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)	rs77697105	0.01678
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)	rs78183930	0.01302
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	rs76116949	0.01184
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)	rs79708848	0.01180
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)	rs115970214	0.00892
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)	rs80338868	0.00799
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)	rs150761878	0.00781
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)	rs76389165	0.00694
NM_025137.4(SPG11):c.257+13G>A	rs201936649	0.00032
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)	rs552320263	0.00002
NM_025137.4(SPG11):c.4907-5C>T	rs531032784
NM_025137.4(SPG11):c.6477+13del	rs574960359

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.