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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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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.175C>T (p.Arg59Ter)	rs745517517	0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)	rs757523840	0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	rs139425890	0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	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.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)	rs747199032	0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)	rs1057516798	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.736C>T (p.Arg246Trp)	rs773729410	0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	rs757091387	0.00001
NM_005476.7(GNE):c.-42-1G>T
NM_005476.7(GNE):c.1085G>A (p.Gly362Glu)	rs755188930
NM_005476.7(GNE):c.1220dup (p.Ser408fs)	rs2133041569
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)	rs1554658910
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	rs764698870
NM_005476.7(GNE):c.1633_1633+3del	rs1554658877
NM_005476.7(GNE):c.164+1G>A	rs1554664043
NM_005476.7(GNE):c.1686del (p.Cys563fs)	rs886044449
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del)	rs762796465
NM_005476.7(GNE):c.1740del (p.Cys581fs)	rs1554658453
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)	rs111302956
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)	rs1436850036
NM_005476.7(GNE):c.1816+2T>C
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.221_222del (p.Thr74fs)	rs2133113896
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)	rs372872777
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.5A>G (p.Glu2Gly)	rs1830025657
NM_005476.7(GNE):c.601_604dup (p.Arg202fs)	rs886042120
NM_005476.7(GNE):c.616+1del	rs1554663295
NM_005476.7(GNE):c.617-2A>G	rs1554661582
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.831_833delinsATCCCAA (p.Ala278fs)
NM_005476.7(GNE):c.961del (p.Arg321fs)	rs1829284063

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