List of variants reported as uncertain significance for amyotrophic lateral sclerosis by Inherited Neuropathy Consortium Ii, University Of Miami

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_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_014845.6(FIG4):c.524T>C (p.Leu175Pro)	rs397514707	0.00001
NM_014845.6(FIG4):c.1162A>G (p.Arg388Gly)
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)	rs879253926
NM_014845.6(FIG4):c.1388+5G>T	rs200730266
NM_014845.6(FIG4):c.143A>G (p.Asp48Gly)
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)	rs121908290
NM_014845.6(FIG4):c.311G>A (p.Gly104Asp)	rs397509395
NM_014845.6(FIG4):c.67-1G>T
NM_014845.6(FIG4):c.837T>G (p.Phe279Leu)
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)	rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)	rs121434378
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)	rs28941475

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.