ClinVar Miner

List of variants in gene GNE reported as uncertain significance

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Total variants: 194
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HGVS dbSNP
NC_000009.11:g.(?_36276871)_(36277059_?)dup
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=) rs192260997
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816
NM_001128227.3(GNE):c.3G>A (p.Met1Ile) rs1554668704
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.52-9070C>T rs886063928
NM_001128227.3(GNE):c.52-9097C>T rs886063929
NM_001128227.3(GNE):c.7del (p.Thr3fs) rs1563966097
NM_001190388.1(GNE):c.2T>G (p.Met1Arg) rs757093701
NM_001190388.1(GNE):c.34C>A (p.Pro12Thr) rs1479837278
NM_001190388.1(GNE):c.41_42del (p.Lys14fs) rs751222162
NM_005476.7(GNE):c.*1012_*1013CA[10] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[14] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[15] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[16] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[22] rs10527967
NM_005476.7(GNE):c.*1575C>T rs761447556
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*1728C>T rs41277097
NM_005476.7(GNE):c.*208T>C rs771508931
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*2448A>G rs757287887
NM_005476.7(GNE):c.*2679G>A rs566044462
NM_005476.7(GNE):c.*2766T>C rs886063916
NM_005476.7(GNE):c.*2847T>C rs886063915
NM_005476.7(GNE):c.*2877T>C rs886063914
NM_005476.7(GNE):c.*2905_*2906del rs886063913
NM_005476.7(GNE):c.*446C>T rs886063924
NM_005476.7(GNE):c.*513G>A rs886063923
NM_005476.7(GNE):c.*554G>A rs755277976
NM_005476.7(GNE):c.*691A>T rs10972791
NM_005476.7(GNE):c.*692_*694AAT[10] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[12] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[13] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[9] rs113316798
NM_005476.7(GNE):c.*693A>T rs886063922
NM_005476.7(GNE):c.*694T>A rs867926432
NM_005476.7(GNE):c.*702dup rs886063921
NM_005476.7(GNE):c.-12_-11dup rs1554664095
NM_005476.7(GNE):c.-15C>T rs794727279
NM_005476.7(GNE):c.-16A>T rs767777879
NM_005476.7(GNE):c.-42-3C>T rs764657091
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839
NM_005476.7(GNE):c.1020A>C (p.Gln340His) rs747807631
NM_005476.7(GNE):c.1020A>G (p.Gln340=) rs747807631
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn) rs1554660095
NM_005476.7(GNE):c.103G>A (p.Glu35Lys) rs758157078
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu) rs1554660090
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.1081T>C (p.Tyr361His) rs1192630467
NM_005476.7(GNE):c.1087G>A (p.Asp363Asn) rs766459139
NM_005476.7(GNE):c.1099G>A (p.Val367Ile) rs1554659769
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) rs776568062
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.125A>C (p.Asp42Ala)
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg) rs1313840587
NM_005476.7(GNE):c.1276A>C (p.Met426Leu) rs750404513
NM_005476.7(GNE):c.1276A>G (p.Met426Val) rs750404513
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836
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.1304C>T (p.Thr435Ile) rs1563930778
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.1354A>G (p.Met452Val) rs746051210
NM_005476.7(GNE):c.1379C>T (p.Ala460Val) rs121908631
NM_005476.7(GNE):c.1408G>C (p.Val470Leu) rs749320547
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.1475T>A (p.Ile492Asn) rs1563930321
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) rs966918577
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu) rs1414079876
NM_005476.7(GNE):c.1546A>C (p.Asn516His) rs1563930141
NM_005476.7(GNE):c.1565C>T (p.Ala522Val) rs1563930123
NM_005476.7(GNE):c.1567C>A (p.Leu523Met) rs1554658905
NM_005476.7(GNE):c.1567C>G (p.Leu523Val) rs1554658905
NM_005476.7(GNE):c.1572G>A (p.Ala524=) rs112824871
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.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272
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+11del rs886063925
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+3G>A rs370730412
NM_005476.7(GNE):c.1933+8T>C rs768321445
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.2008G>T (p.Val670Phe) rs746449874
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.2044G>A (p.Val682Ile) rs768384042
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
NM_005476.7(GNE):c.2070C>T (p.Ser690=) rs776582567
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588
NM_005476.7(GNE):c.207C>T (p.Asn69=) rs781586600
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.2088_2090GGT[1] (p.Val698del) rs1554657956
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682
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.2T>C (p.Met1Thr) rs1554664086
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065
NM_005476.7(GNE):c.305T>C (p.Leu102Pro) rs760704097
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
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.469C>A (p.His157Asn)
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.598A>T (p.Ile200Phe) rs369328625
NM_005476.7(GNE):c.607A>G (p.Met203Val) rs1269845468
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476
NM_005476.7(GNE):c.616G>A (p.Gly206Ser) rs766266918
NM_005476.7(GNE):c.620_622ATG[1] (p.Asp208del) rs1554661574
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.6_8GAA[1] (p.Lys3del) rs1554664082
NM_005476.7(GNE):c.710T>C (p.Leu237Ser) rs886043407
NM_005476.7(GNE):c.711G>A (p.Leu237=) rs724159957
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=) rs763368889
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.769+4A>G rs886063926
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.851T>C (p.Phe284Ser) rs1563938450
NM_005476.7(GNE):c.890T>C (p.Met297Thr) rs778668749
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
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.952C>G (p.Leu318Val) rs1554661032
NM_005476.7(GNE):c.961C>T (p.Arg321Cys) rs1554661030
NM_005476.7(GNE):c.982+3del
NM_005476.7(GNE):c.982+8C>T rs1563938239
NM_005476.7(GNE):c.992T>G (p.Val331Gly) rs1554660119

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