ClinVar Miner

List of variants in gene GNE reported as pathogenic by OMIM

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Total variants: 16
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HGVS dbSNP
NM_005476.7(GNE):c.1379C>T (p.Ala460Val) rs121908631
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu) rs121908625
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr) rs121908626
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.511A>G (p.Met171Val) rs121908634
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630
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
NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val) rs121908633
NM_005476.7(GNE):c.909T>A (p.Cys303Ter) rs121908628

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