ClinVar Miner

List of variants in gene GNE reported as pathogenic for inborn disorder of lysosomal amino acid transport

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
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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_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
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.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.32G>A (p.Arg11Gln) rs1401082365 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.1531C>T (p.Pro511Ser) rs966918577 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr) rs752286512 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 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
NC_000009.11:g.(?_36227225)_(36276941_?)del
NC_000009.11:g.(?_36227235)_(36227465_?)del
NC_000009.11:g.(?_36245958)_(36249414_?)del
NC_000009.11:g.(?_36246008)_(36276941_?)del
NC_000009.11:g.(?_36246018)_(36246489_?)del
NC_000009.12:g.(?_36276884)_(36277052_?)del
NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)
NM_001128227.3(GNE):c.55_62del (p.Glu18_Leu19insTer) rs2133126724
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.7del (p.Thr3fs) rs1563966097
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter) rs1554664090
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter) rs983424324
NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs) rs1829026390
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter) rs1276168825
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)
NM_005476.7(GNE):c.1112del (p.Ile370_Leu371insTer) rs2133042191
NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer)
NM_005476.7(GNE):c.1220dup (p.Ser408fs) rs2133041569
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter) rs1554658955
NM_005476.7(GNE):c.1477C>T (p.Gln493Ter)
NM_005476.7(GNE):c.1501_1529del (p.Arg501fs) rs1554658924
NM_005476.7(GNE):c.1510dup (p.Leu504fs) rs1828669338
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer) rs1828665576
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1643del (p.Gly548fs) rs2133007268
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1690del (p.Ala564fs) rs2133007032
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.174_177dup (p.Met60fs) rs2133114222
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter) rs111302956
NM_005476.7(GNE):c.1789C>T (p.Gln597Ter) rs2133006228
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1816+5G>A rs2133005844
NM_005476.7(GNE):c.182_185del (p.Ile61fs)
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)
NM_005476.7(GNE):c.1933+1G>C
NM_005476.7(GNE):c.1973del (p.His658fs)
NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)
NM_005476.7(GNE):c.2005_2011del (p.Gly669fs) rs2132993345
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2135del (p.Met712fs)
NM_005476.7(GNE):c.221_222del (p.Thr74fs) rs2133113896
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
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.388del (p.Ile130fs) rs1423445315
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.454_616+70delinsTAG rs2133111012
NM_005476.7(GNE):c.463dup (p.His155fs)
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.540_553del (p.Leu180fs)
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
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.620ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.680dup (p.His228fs) rs1554661552
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.711G>A (p.Leu237=) rs724159957
NM_005476.7(GNE):c.712del (p.Asp238fs)
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer) rs2133078032
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_005476.7(GNE):c.787C>T (p.Arg263Ter) rs200643106
NM_005476.7(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005476.7(GNE):c.798del (p.Lys267fs)
NM_005476.7(GNE):c.79C>T (p.Pro27Ser) rs1554664064
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)
NM_005476.7(GNE):c.952_953del (p.Leu318fs) rs2133068002
NM_005476.7(GNE):c.976G>T (p.Glu326Ter)
NM_005476.7(GNE):c.985G>T (p.Glu329Ter)
NM_005476.7(GNE):c.997dup (p.His333fs) rs2133049724

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