ClinVar Miner

List of variants in gene GNE reported by Invitae

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Gene type:
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Total variants: 54
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HGVS dbSNP
NC_000009.11:g.(?_36276871)_(36277059_?)dup
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)
NM_005476.7(GNE):c.-42-3C>T
NM_005476.7(GNE):c.1070+2dup rs886043636
NM_005476.7(GNE):c.1081T>C (p.Tyr361His) rs1192630467
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1276A>G (p.Met426Val) rs750404513
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1304C>T (p.Thr435Ile) rs1563930778
NM_005476.7(GNE):c.1311C>T (p.Phe437=) rs1554659051
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys) rs1337925138
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) rs1554659040
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn) rs1563930321
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610
NM_005476.7(GNE):c.1565C>T (p.Ala522Val) rs1563930123
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.1816+4G>C rs760700813
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394
NM_005476.7(GNE):c.1933+3G>A
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541
NM_005476.7(GNE):c.2008G>T (p.Val670Phe)
NM_005476.7(GNE):c.2044G>A (p.Val682Ile)
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682
NM_005476.7(GNE):c.2112C>T (p.Pro704=) rs779967033
NM_005476.7(GNE):c.2118G>A (p.Leu706=) rs1554657933
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.297T>C (p.Leu99=) rs544304534
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950
NM_005476.7(GNE):c.607A>G (p.Met203Val) rs1269845468
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402
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.79C>T (p.Pro27Ser) rs1554664064
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943
NM_005476.7(GNE):c.851T>C (p.Phe284Ser) rs1563938450
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032

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