ClinVar Miner

List of variants in gene NEU1 reported as pathogenic for Sialidosis type I

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Total variants: 4
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NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter) rs104893971
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) rs104893983
NM_000434.4(NEU1):c.946C>T (p.Pro316Ser) rs104893979

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