ClinVar Miner

List of variants reported as uncertain significance for Spongy degeneration of central nervous system by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000049.3(ASPA):c.*246G>A rs769255741
NM_000049.3(ASPA):c.*27C>T rs151133430
NM_000049.3(ASPA):c.-105T>C rs886052822
NM_000049.3(ASPA):c.-152C>T rs886052821
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) rs144321760
NM_000049.3(ASPA):c.807G>A (p.Thr269=) rs759106494
NM_000049.3(ASPA):c.905C>T (p.Thr302Met) rs763869261
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_001321336.1(SPATA22):c.-73-19863del rs1567614635

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.