ClinVar Miner

List of variants in gene GNE reported as pathogenic by GeneReviews

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Total variants: 13
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HGVS dbSNP
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629
NM_005476.7(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622

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