List of variants in gene ADPRS reported as uncertain significance for Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys)	rs139736291	0.00039
NM_017825.3(ADPRS):c.136G>T (p.Val46Phe)	rs749889837	0.00001
NM_017825.3(ADPRS):c.384G>A (p.Leu128=)	rs138995178	0.00001
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)	rs531916765
NM_017825.3(ADPRS):c.238G>T (p.Ala80Ser)	rs2524682780
NM_017825.3(ADPRS):c.242T>A (p.Met81Lys)	rs2524682794
NM_017825.3(ADPRS):c.37G>C (p.Gly13Arg)
NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp)	rs866152144
NM_017825.3(ADPRS):c.544C>T (p.His182Tyr)	rs2124055158
NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	rs1643491610

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.