ClinVar Miner

List of variants in gene GNE reported as pathogenic for not provided

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Total variants: 26
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HGVS dbSNP
NM_001128227.2(GNE):c.1726_1726+3delGGTA rs1554658877
NM_001128227.2(GNE):c.709+1delG rs1554663295
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522
NM_005476.7(GNE):c.164+1G>A rs1554664043
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter) rs111302956
NM_005476.7(GNE):c.1790_1791AG[3] (p.Glu599fs) rs1563928043
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
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.470_471del (p.His157fs) rs1554663368
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005476.7(GNE):c.601_604dup (p.Arg202fs) rs1554663306
NM_005476.7(GNE):c.617-2A>G rs1554661582
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720

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