ClinVar Miner

List of variants in gene GNE reported as likely pathogenic for Sialuria

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu) rs201808007 0.00002
NM_005476.7(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621

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