List of variants reported as pathogenic for GNE myopathy

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Total variants: 53

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	rs199877522	0.00021
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	rs62541771	0.00011
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	rs779694939	0.00004
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)	rs1212623980	0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	rs745517517	0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)	rs757523840	0.00003
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)	rs121908626	0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	rs139425890	0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)	rs121908630	0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	rs1236647498	0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	rs1057516374	0.00003
NM_005476.7(GNE):c.1130del (p.Ile377fs)	rs982936794	0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)	rs121908632	0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	rs748949603	0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	rs776384541	0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His)	rs144727134	0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)	rs747199032	0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)	rs754892377	0.00001
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)	rs121908625	0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)	rs1191857860	0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	rs28937594	0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	rs539332585	0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)	rs786204476	0.00001
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)	rs759945787	0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)	rs773729410	0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	rs757091387	0.00001
NM_005476.7(GNE):c.1220dup (p.Ser408fs)	rs2133041569
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)	rs786204558
NM_005476.7(GNE):c.1379C>T (p.Ala460Val)	rs121908631
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)	rs1057516657
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	rs764698870
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)	rs387906347
NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)	rs766420673
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)	rs372872777
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)	rs748704459
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)	rs1209266607
NM_005476.7(GNE):c.397_398dup (p.Glu134fs)	rs1829869628
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	rs886044514
NM_005476.7(GNE):c.511A>G (p.Met171Val)	rs121908634
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)	rs1830025657
NM_005476.7(GNE):c.694del (p.Met232fs)	rs1554661549
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer)	rs2133078032
NM_005476.7(GNE):c.787C>T (p.Arg263Ter)	rs200643106
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)
NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val)	rs121908633
NM_005476.7(GNE):c.909T>A (p.Cys303Ter)	rs121908628
NM_005476.7(GNE):c.[2086G>A];[385C>T]

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