List of variants studied for Aicardi-Goutieres syndrome 2 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=)	rs35416748	0.00984
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)	rs144408326	0.00132
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)	rs150363383	0.00043
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala)	rs201078944	0.00020
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)	rs551573692	0.00013
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)	rs372632599	0.00002
NM_024570.4(RNASEH2B):c.136+1del	rs75186889
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)	rs74555752
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)	rs75254367

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.