ClinVar Miner

List of variants reported as uncertain significance for Sialidosis, type II

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Total variants: 14
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HGVS dbSNP
NM_000434.3(NEU1):c.-49C>T rs374172739
NM_000434.3(NEU1):c.-76C>G rs566696697
NM_000434.4(NEU1):c.*269C>T rs886061288
NM_000434.4(NEU1):c.*445T>G rs113824527
NM_000434.4(NEU1):c.*454A>G rs886061287
NM_000434.4(NEU1):c.*524C>T rs886061286
NM_000434.4(NEU1):c.*596G>T rs749671704
NM_000434.4(NEU1):c.-13G>A rs886061291
NM_000434.4(NEU1):c.1107C>A (p.Gly369=) rs150864071
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu) rs886061290
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) rs768711214
NM_000434.4(NEU1):c.474T>G (p.Cys158Trp) rs886061289
NM_000434.4(NEU1):c.799-4T>C rs759065536
NM_000434.4(NEU1):c.888T>C (p.Tyr296=) rs754422982

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