ClinVar Miner

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:
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 0.38250
NM_000262.3(NAGA):c.598-15C>T rs2854827 0.21339
NM_000262.3(NAGA):c.*1035G>A rs62238588 0.05880
NM_000262.3(NAGA):c.957+4C>G rs55715427 0.05864
NM_000262.3(NAGA):c.*143C>T rs17002832 0.03106
NM_000262.3(NAGA):c.*1814C>T rs80313011 0.02824
NM_000262.3(NAGA):c.*12A>C rs2229547 0.02530
NM_000262.3(NAGA):c.*1103T>C rs117826003 0.01315
NM_000262.3(NAGA):c.*1696C>T rs11703233 0.01015
NM_000262.3(NAGA):c.*170G>A rs142863061 0.00626
NM_000262.3(NAGA):c.*161T>C rs150991002 0.00574
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.