ClinVar Miner

List of variants reported as likely benign for Spongy degeneration of central nervous system by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_000049.3(ASPA):c.427A>G (p.Ile143Val)	rs199565861
NM_000049.3(ASPA):c.906G>A (p.Thr302=)	rs371394875
NM_000049.3(ASPA):c.927C>T (p.Arg309=)	rs749049390
NM_000049.4(ASPA):c.237-6T>C	rs370219865

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.