List of variants reported as pathogenic for Aicardi-Goutieres syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033629.6(TREX1):c.341G>A (p.Arg114His)	rs72556554	0.00030
NM_033629.6(TREX1):c.243_246del (p.Ser82fs)	rs2040335386
NM_033629.6(TREX1):c.58dup (p.Glu20fs)	rs78300695
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter)	rs184953805

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.