ClinVar Miner

List of variants in gene NAGA reported as pathogenic for alpha-N-acetylgalactosaminidase deficiency type 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) rs121434533 0.00004
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp) rs121434530

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