List of variants in gene NIPA1 reported as uncertain significance for Spastic paraplegia, autosomal dominant

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_144599.5(NIPA1):c.1190_1191del	rs764504513	0.00040
NM_144599.5(NIPA1):c.5395_5396del	rs886050987	0.00010
NM_144599.5(NIPA1):c.*3316T>C	rs527532188	0.00006
NM_144599.5(NIPA1):c.1845_1846dup	rs113532349
NM_144599.5(NIPA1):c.*2727dup	rs746846799
NM_144599.5(NIPA1):c.5474_5477del	rs747886565

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.