ClinVar Miner

List of variants reported as uncertain significance for Alpha-N-acetylgalactosaminidase deficiency type 1 by Invitae

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Total variants: 12
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NM_000262.3(NAGA):c.104G>A (p.Arg35His)
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln) rs144771084
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) rs1569456853
NM_000262.3(NAGA):c.16G>A (p.Val6Met) rs1602499597
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr) rs749506008
NM_000262.3(NAGA):c.406G>C (p.Asp136His) rs186173534
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) rs372458856
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)
NM_000262.3(NAGA):c.983T>C (p.Met328Thr) rs140356002

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