ClinVar Miner

List of variants in gene combination LOC130056709, NIPA1 reported as likely benign for Hereditary spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144599.5(NIPA1):c.21A>G (p.Ala7=) rs749414711 0.00027
NM_144599.5(NIPA1):c.21_23del (p.Ala16del) rs769916931
NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del) rs1555371600
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505

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.