ClinVar Miner

List of variants in gene NAGA reported as benign for Alpha-N-acetylgalactosaminidase deficiency type 1

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Total variants: 13
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HGVS dbSNP
NM_000262.3(NAGA):c.*12A>C rs2229547
NM_000262.3(NAGA):c.*143C>T rs17002832
NM_000262.3(NAGA):c.*161T>C rs150991002
NM_000262.3(NAGA):c.*170G>A
NM_000262.3(NAGA):c.-208G>C rs133375
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948
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.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.598-15C>T rs2854827
NM_000262.3(NAGA):c.760-7C>A rs150693978
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)
NM_000262.3(NAGA):c.957+4C>G rs55715427

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