ClinVar Miner

List of variants in gene GNE reported as pathogenic

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Gene type:
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Total variants: 44
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HGVS dbSNP
Multiple alleles
NC_000009.12:g.36259405_36266486del7082
NM_001128227.2(GNE):c.1000_1001delTGinsGT (p.Cys334Val) rs121908633
NM_001128227.2(GNE):c.1002T>A (p.Cys334Ter) rs121908628
NM_001128227.2(GNE):c.115C>T (p.Arg39Ter) rs766420673
NM_001128227.2(GNE):c.1225G>T (p.Asp409Tyr) rs199877522
NM_001128227.2(GNE):c.131G>C (p.Cys44Ser) rs1209266607
NM_001128227.2(GNE):c.1351C>T (p.Arg451Ter) rs747199032
NM_001128227.2(GNE):c.1472C>T (p.Ala491Val) rs121908631
NM_001128227.2(GNE):c.1664C>T (p.Ala555Val) rs764698870
NM_001128227.2(GNE):c.1726_1726+3delGGTA rs1554658877
NM_001128227.2(GNE):c.1779delC (p.Cys594Valfs) rs886044449
NM_001128227.2(GNE):c.1820G>A (p.Gly607Glu) rs121908625
NM_001128227.2(GNE):c.1863C>A (p.Tyr621Ter) rs111302956
NM_001128227.2(GNE):c.1885_1886dup (p.Glu630Glyfs)
NM_001128227.2(GNE):c.18T>A (p.Tyr6Ter)
NM_001128227.2(GNE):c.1937C>G (p.Ser646Ter) rs757523840
NM_001128227.2(GNE):c.1985C>T (p.Ala662Val) rs62541771
NM_001128227.2(GNE):c.2008C>T (p.Gln670Ter) rs886042195
NM_001128227.2(GNE):c.2228T>C (p.Met743Thr) rs28937594
NM_001128227.2(GNE):c.257+1G>A rs1554664043
NM_001128227.2(GNE):c.268C>T (p.Arg90Ter) rs745517517
NM_001128227.2(GNE):c.479G>A (p.Arg160Gln) rs748704459
NM_001128227.2(GNE):c.563_564delAT (p.His188Argfs) rs1554663368
NM_001128227.2(GNE):c.577C>T (p.Arg193Cys) rs769215411
NM_001128227.2(GNE):c.604A>G (p.Met202Val) rs121908634
NM_001128227.2(GNE):c.709+1delG rs1554663295
NM_001128227.2(GNE):c.710-2A>G rs1554661582
NM_001128227.2(GNE):c.740T>C (p.Val247Ala) rs779694939
NM_001128227.2(GNE):c.766G>A (p.Asp256Asn) rs121908630
NM_001128227.2(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.2(GNE):c.829C>T (p.Arg277Trp) rs773729410
NM_001128227.2(GNE):c.830G>A (p.Arg277Gln) rs121908629
NM_001128227.2(GNE):c.97G>T (p.Glu33Ter) rs886044514
NM_001190383.1(GNE):c.1669G>A (p.Ala557Thr) rs121908626
NM_005476.5(GNE):c.1714G>C (p.Val572Leu) rs121908632
NM_005476.5(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.5(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.5(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005476.5(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005476.5(GNE):c.829C>T (p.Arg277Cys) rs762106720
NM_005476.6(GNE):c.601_604dup (p.Arg202Hisfs) rs1554663306
NM_005476.6(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.6(GNE):c.796C>T (p.Arg266Trp) rs121908621

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