ClinVar Miner

List of variants in gene LOC126863160, NAGA studied for Alpha-N-acetylgalactosaminidase deficiency type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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.25C>T (p.Leu9=) rs147528904 0.00293
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp) rs200080569 0.00017
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187 0.00013
NM_000262.3(NAGA):c.110G>A (p.Arg37His) rs199834981 0.00009
NM_000262.3(NAGA):c.324C>T (p.Tyr108=) rs182798205 0.00004
NM_000262.3(NAGA):c.582C>T (p.Gly194=) rs553977653 0.00004
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) rs886057597 0.00001
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089 0.00001
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.486C>G (p.Pro162=) rs760003063
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter) rs121434531

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.