ClinVar Miner

List of variants in gene NAGA studied for alpha-N-acetylgalactosaminidase deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000262.3(NAGA):c.*12A>C rs2229547
NM_000262.3(NAGA):c.*143C>T rs17002832
NM_000262.3(NAGA):c.*155A>G rs761125179
NM_000262.3(NAGA):c.*161T>C rs150991002
NM_000262.3(NAGA):c.*176C>G rs191051580
NM_000262.3(NAGA):c.*268G>A rs886057596
NM_000262.3(NAGA):c.*555C>T rs141688392
NM_000262.3(NAGA):c.-208G>C rs133375
NM_000262.3(NAGA):c.-306C>A rs886057598
NM_000262.3(NAGA):c.-43C>T rs753592199
NM_000262.3(NAGA):c.-496G>C rs886057599
NM_000262.3(NAGA):c.-502A>C rs886057600
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) rs778343270
NM_000262.3(NAGA):c.110G>A (p.Arg37His) rs199834981
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln)
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) rs1569456853
NM_000262.3(NAGA):c.16G>A (p.Val6Met)
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) rs886057597
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.324+1G>A
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.406G>C (p.Asp136His)
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)
NM_000262.3(NAGA):c.502+8A>T rs375946807
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter) rs121434531
NM_000262.3(NAGA):c.598-15C>T rs2854827
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.638G>A (p.Arg213His) rs781499383
NM_000262.3(NAGA):c.760-7C>A rs150693978
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys) rs368220690
NM_000262.3(NAGA):c.957+4C>G rs55715427
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp) rs121434530
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) rs121434533
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281

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.