ClinVar Miner

List of variants in gene GNE reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP
NM_001128227.2(GNE):c.862+4dupA rs756817842
NM_001128227.3(GNE):c.-3G>A rs368762704
NM_001128227.3(GNE):c.-4C>T rs769506627
NM_001128227.3(GNE):c.15T>C (p.Gly5=)
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg) rs762425552
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys) rs1403279875
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.7del (p.Thr3fs) rs1563966097
NM_001190388.1(GNE):c.34C>A (p.Pro12Thr) rs1479837278
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839
NM_005476.7(GNE):c.1020A>C (p.Gln340His)
NM_005476.7(GNE):c.1020A>G (p.Gln340=) rs747807631
NM_005476.7(GNE):c.103G>A (p.Glu35Lys)
NM_005476.7(GNE):c.1063T>C (p.Tyr355His) rs886044389
NM_005476.7(GNE):c.1070+2dup rs886043636
NM_005476.7(GNE):c.1070+5G>A rs374170125
NM_005476.7(GNE):c.1070+7A>G rs149675783
NM_005476.7(GNE):c.1087G>A (p.Asp363Asn)
NM_005476.7(GNE):c.1117T>G (p.Phe373Val) rs794727868
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro) rs1554659760
NM_005476.7(GNE):c.1129A>G (p.Ile377Val)
NM_005476.7(GNE):c.1153_1158del (p.Lys385_Lys386del) rs1554659740
NM_005476.7(GNE):c.1156A>C (p.Lys386Gln) rs1180382282
NM_005476.7(GNE):c.1186A>C (p.Ile396Leu) rs886042509
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518
NM_005476.7(GNE):c.1250C>T (p.Thr417Met) rs1554659711
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln) rs780092539
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1276A>C (p.Met426Leu) 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.1301A>G (p.Tyr434Cys) rs1447770049
NM_005476.7(GNE):c.1302T>C (p.Tyr434=) rs886044498
NM_005476.7(GNE):c.1379C>T (p.Ala460Val) rs121908631
NM_005476.7(GNE):c.1408G>C (p.Val470Leu)
NM_005476.7(GNE):c.1412-4G>A rs146067766
NM_005476.7(GNE):c.1412-5C>T rs369078814
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp) rs1439999698
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610
NM_005476.7(GNE):c.1510C>T (p.Leu504Phe) rs748005215
NM_005476.7(GNE):c.1526A>C (p.His509Pro) rs751302642
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)
NM_005476.7(GNE):c.1546A>C (p.Asn516His) rs1563930141
NM_005476.7(GNE):c.1572G>A (p.Ala524=)
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1620T>C (p.Leu540=) rs774849278
NM_005476.7(GNE):c.1634-7G>A rs139442869
NM_005476.7(GNE):c.1638C>T (p.Ile546=) rs147768211
NM_005476.7(GNE):c.165-9C>T rs760509369
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1674C>T (p.His558=) rs144931111
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737
NM_005476.7(GNE):c.1729C>A (p.Pro577Thr) rs886044550
NM_005476.7(GNE):c.1742G>T (p.Cys581Phe) rs756926638
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr) rs752286512
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220
NM_005476.7(GNE):c.1816+10C>T rs1554658425
NM_005476.7(GNE):c.1816+4G>C rs760700813
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140
NM_005476.7(GNE):c.1933+8T>C
NM_005476.7(GNE):c.1978A>G (p.Met660Val) rs1554658048
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe) rs1258671706
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541
NM_005476.7(GNE):c.2021A>G (p.His674Arg) rs1554658011
NM_005476.7(GNE):c.2029C>T (p.His677Tyr) rs527267621
NM_005476.7(GNE):c.2043C>A (p.Asp681Glu) rs568010488
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
NM_005476.7(GNE):c.2070C>T (p.Ser690=)
NM_005476.7(GNE):c.2079C>T (p.Asp693=)
NM_005476.7(GNE):c.207C>T (p.Asn69=) rs781586600
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr) rs201216576
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2120T>C (p.Leu707Pro) rs886044099
NM_005476.7(GNE):c.233G>A (p.Gly78Glu) rs886043490
NM_005476.7(GNE):c.23G>A (p.Arg8Gln) rs763057654
NM_005476.7(GNE):c.297T>G (p.Leu99=) rs544304534
NM_005476.7(GNE):c.305T>C (p.Leu102Pro) rs760704097
NM_005476.7(GNE):c.317T>C (p.Ile106Thr) rs773920008
NM_005476.7(GNE):c.329A>G (p.His110Arg) rs886043739
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365
NM_005476.7(GNE):c.455A>C (p.Lys152Thr) rs1157107103
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505
NM_005476.7(GNE):c.481A>G (p.Thr161Ala) rs1292723201
NM_005476.7(GNE):c.487A>G (p.Ser163Gly) rs752740158
NM_005476.7(GNE):c.501C>T (p.His167=) rs1554663342
NM_005476.7(GNE):c.568C>T (p.Leu190Phe) rs886042560
NM_005476.7(GNE):c.616G>A (p.Gly206Ser) rs766266918
NM_005476.7(GNE):c.638A>T (p.Asp213Val) rs1554661565
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630
NM_005476.7(GNE):c.695T>C (p.Met232Thr) rs761468890
NM_005476.7(GNE):c.710T>C (p.Leu237Ser) rs886043407
NM_005476.7(GNE):c.711G>C (p.Leu237Phe) rs724159957
NM_005476.7(GNE):c.722T>G (p.Ile241Ser) rs759945787
NM_005476.7(GNE):c.726A>G (p.Ser242=)
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.783G>T (p.Met261Ile) rs1554661095
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943
NM_005476.7(GNE):c.829C>G (p.Arg277Gly) rs762106720
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766
NM_005476.7(GNE):c.890T>C (p.Met297Thr)
NM_005476.7(GNE):c.917G>A (p.Arg306Gln) rs1455785164
NM_005476.7(GNE):c.949A>G (p.Asn317Asp) rs1554661042
NM_005476.7(GNE):c.961C>T (p.Arg321Cys) rs1554661030
NM_005476.7(GNE):c.982+8C>T rs1563938239

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