List of variants reported as benign for alpha-N-acetylgalactosaminidase deficiency type 2 by Illumina Laboratory Services, Illumina

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)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000262.3(NAGA):c.279G>A (p.Pro93=)	rs133369	0.64950
NM_000262.3(NAGA):c.*1929C>T	rs5758566	0.62119
NM_000262.3(NAGA):c.-208G>C	rs133375	0.61550
NM_000262.3(NAGA):c.*1333T>C	rs1063392	0.39421
NM_000262.3(NAGA):c.598-15C>T	rs2854827	0.20658
NM_000262.3(NAGA):c.957+4C>G	rs55715427	0.05864
NM_000262.3(NAGA):c.*1035G>A	rs62238588	0.05786
NM_000262.3(NAGA):c.*143C>T	rs17002832	0.02889
NM_000262.3(NAGA):c.*1814C>T	rs80313011	0.02604
NM_000262.3(NAGA):c.*12A>C	rs2229547	0.02382
NM_000262.3(NAGA):c.*1103T>C	rs117826003	0.01315
NM_000262.3(NAGA):c.*1696C>T	rs11703233	0.01094
NM_000262.3(NAGA):c.*170G>A	rs142863061	0.00626
NM_000262.3(NAGA):c.*161T>C	rs150991002	0.00559
NM_000262.3(NAGA):c.760-7C>A	rs150693978	0.00063
NM_000262.3(NAGA):c.1788_1789del	rs10713176

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.