ClinVar Miner

List of variants in gene GNE reported as uncertain significance

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Total variants: 190
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HGVS dbSNP
NC_000009.12:g.(?_36276874)_(36277062_?)dup
NM_001128227.2(GNE):c.-58_-57delAA rs751222162
NM_001128227.2(GNE):c.-97T>G rs757093701
NM_001128227.2(GNE):c.1003G>A (p.Gly335Arg) rs755743750
NM_001128227.2(GNE):c.1010G>A (p.Arg337Gln) rs1455785164
NM_001128227.2(GNE):c.102_104delGAA (p.Lys34del) rs1554664082
NM_001128227.2(GNE):c.1042A>G (p.Asn348Asp) rs1554661042
NM_001128227.2(GNE):c.1045C>G (p.Leu349Val) rs1554661032
NM_001128227.2(GNE):c.1054C>T (p.Arg352Cys) rs1554661030
NM_001128227.2(GNE):c.1075+8C>T
NM_001128227.2(GNE):c.1085T>G (p.Val362Gly) rs1554660119
NM_001128227.2(GNE):c.1096C>T (p.Arg366Trp) rs150132839
NM_001128227.2(GNE):c.1113A>C (p.Gln371His)
NM_001128227.2(GNE):c.1113A>G (p.Gln371=) rs747807631
NM_001128227.2(GNE):c.1132_1135delCTGCinsA (p.Leu378_His379delinsAsn) rs1554660095
NM_001128227.2(GNE):c.1150A>G (p.Lys384Glu) rs1554660090
NM_001128227.2(GNE):c.1156T>C (p.Tyr386His) rs886044389
NM_001128227.2(GNE):c.1163+2dupT rs886043636
NM_001128227.2(GNE):c.1163+5G>A rs374170125
NM_001128227.2(GNE):c.1163+7A>G rs149675783
NM_001128227.2(GNE):c.116G>A (p.Arg39Gln) rs763057654
NM_001128227.2(GNE):c.1174T>C (p.Tyr392His)
NM_001128227.2(GNE):c.1180G>A (p.Asp394Asn)
NM_001128227.2(GNE):c.1192G>A (p.Val398Ile) rs1554659769
NM_001128227.2(GNE):c.1210T>G (p.Phe404Val) rs794727868
NM_001128227.2(GNE):c.1219T>C (p.Ser407Pro) rs1554659760
NM_001128227.2(GNE):c.1222A>G (p.Ile408Val)
NM_001128227.2(GNE):c.1246_1251delAAGAAA (p.Lys416_Lys417del) rs1554659740
NM_001128227.2(GNE):c.1249A>C (p.Lys417Gln) rs1180382282
NM_001128227.2(GNE):c.125G>A (p.Arg42Gln)
NM_001128227.2(GNE):c.1279A>C (p.Ile427Leu) rs886042509
NM_001128227.2(GNE):c.1327G>A (p.Val443Ile) rs369714039
NM_001128227.2(GNE):c.1335T>C (p.Leu445=) rs371881711
NM_001128227.2(GNE):c.1339G>A (p.Gly447Arg) rs866841518
NM_001128227.2(GNE):c.1343C>T (p.Thr448Met) rs1554659711
NM_001128227.2(GNE):c.1352G>A (p.Arg451Gln) rs780092539
NM_001128227.2(GNE):c.1361T>G (p.Ile454Arg) rs1313840587
NM_001128227.2(GNE):c.1369A>C (p.Met457Leu) rs750404513
NM_001128227.2(GNE):c.1369A>G (p.Met457Val) rs750404513
NM_001128227.2(GNE):c.1374G>A (p.Lys458=) rs1554659670
NM_001128227.2(GNE):c.1394A>G (p.Tyr465Cys) rs1447770049
NM_001128227.2(GNE):c.1395T>C (p.Tyr465=) rs886044498
NM_001128227.2(GNE):c.1397C>T (p.Thr466Ile)
NM_001128227.2(GNE):c.1420G>A (p.Glu474Lys)
NM_001128227.2(GNE):c.1425G>C (p.Glu475Asp) rs1554659040
NM_001128227.2(GNE):c.1447A>G (p.Met483Val) rs746051210
NM_001128227.2(GNE):c.1472C>T (p.Ala491Val) rs121908631
NM_001128227.2(GNE):c.1501G>C (p.Val501Leu)
NM_001128227.2(GNE):c.1505-4G>A rs146067766
NM_001128227.2(GNE):c.1505-5C>T rs369078814
NM_001128227.2(GNE):c.1535G>A (p.Arg512Gln) rs138357804
NM_001128227.2(GNE):c.1568T>A (p.Ile523Asn)
NM_001128227.2(GNE):c.15T>C (p.Gly5=)
NM_001128227.2(GNE):c.1602C>G (p.Pro534=) rs141172610
NM_001128227.2(GNE):c.1603C>T (p.Leu535Phe) rs748005215
NM_001128227.2(GNE):c.1619A>C (p.His540Pro) rs751302642
NM_001128227.2(GNE):c.1624C>T (p.Pro542Ser)
NM_001128227.2(GNE):c.1625C>T (p.Pro542Leu) rs1414079876
NM_001128227.2(GNE):c.1639A>C (p.Asn547His)
NM_001128227.2(GNE):c.1658C>T (p.Ala553Val)
NM_001128227.2(GNE):c.1660C>A (p.Leu554Met) rs1554658905
NM_001128227.2(GNE):c.1660C>G (p.Leu554Val) rs1554658905
NM_001128227.2(GNE):c.1665G>A (p.Ala555=)
NM_001128227.2(GNE):c.1676T>G (p.Phe559Cys) rs986773986
NM_001128227.2(GNE):c.1713T>C (p.Leu571=) rs774849278
NM_001128227.2(GNE):c.1727-7G>A rs139442869
NM_001128227.2(GNE):c.1732G>A (p.Gly578Ser)
NM_001128227.2(GNE):c.1732G>T (p.Gly578Cys)
NM_001128227.2(GNE):c.1744A>G (p.Ile582Val) rs754313408
NM_001128227.2(GNE):c.1763T>C (p.Ile588Thr) rs886043979
NM_001128227.2(GNE):c.1767C>T (p.His589=) rs144931111
NM_001128227.2(GNE):c.1768G>A (p.Gly590Arg) rs762009737
NM_001128227.2(GNE):c.1822C>A (p.Pro608Thr) rs886044550
NM_001128227.2(GNE):c.1835G>T (p.Cys612Phe) rs756926638
NM_001128227.2(GNE):c.1891G>A (p.Ala631Thr) rs387906347
NM_001128227.2(GNE):c.18T>A (p.Tyr6Ter)
NM_001128227.2(GNE):c.1900C>T (p.Leu634Phe) rs372732220
NM_001128227.2(GNE):c.1909+10C>T rs1554658425
NM_001128227.2(GNE):c.1909+4G>C rs760700813
NM_001128227.2(GNE):c.1964C>T (p.Ala655Val) rs200278654
NM_001128227.2(GNE):c.196G>A (p.Glu66Lys)
NM_001128227.2(GNE):c.2000C>T (p.Ala667Val) rs756488394
NM_001128227.2(GNE):c.2001G>A (p.Ala667=) rs200812140
NM_001128227.2(GNE):c.2026+3G>A
NM_001128227.2(GNE):c.2026+8T>C
NM_001128227.2(GNE):c.2071A>G (p.Met691Val) rs1554658048
NM_001128227.2(GNE):c.2096C>T (p.Ser699Phe) rs1258671706
NM_001128227.2(GNE):c.2097C>T (p.Ser699=) rs150045137
NM_001128227.2(GNE):c.2098G>A (p.Gly700Arg) rs776384541
NM_001128227.2(GNE):c.2101G>T (p.Val701Phe)
NM_001128227.2(GNE):c.2114A>G (p.His705Arg) rs1554658011
NM_001128227.2(GNE):c.2122C>T (p.His708Tyr) rs527267621
NM_001128227.2(GNE):c.2136C>A (p.Asp712Glu) rs568010488
NM_001128227.2(GNE):c.2137G>A (p.Val713Ile)
NM_001128227.2(GNE):c.2143C>T (p.Arg715Cys) rs139347806
NM_001128227.2(GNE):c.2163C>T (p.Ser721=)
NM_001128227.2(GNE):c.2172C>T (p.Asp724=)
NM_001128227.2(GNE):c.2179G>T (p.Val727Leu) rs121908627
NM_001128227.2(GNE):c.2184_2186delGGT (p.Val729del) rs1554657956
NM_001128227.2(GNE):c.2190G>A (p.Ser730=) rs200490682
NM_001128227.2(GNE):c.2206G>A (p.Ala736Thr) rs201216576
NM_001128227.2(GNE):c.220G>A (p.Val74Ile) rs1223454836
NM_001128227.2(GNE):c.2213T>C (p.Leu738Pro) rs886044099
NM_001128227.2(GNE):c.23A>G (p.Gln8Arg) rs765794816
NM_001128227.2(GNE):c.258-9C>T rs760509369
NM_001128227.2(GNE):c.300C>T (p.Asn100=) rs781586600
NM_001128227.2(GNE):c.304A>T (p.Arg102Trp) rs886044539
NM_001128227.2(GNE):c.326G>A (p.Gly109Glu) rs886043490
NM_001128227.2(GNE):c.390T>G (p.Leu130=) rs544304534
NM_001128227.2(GNE):c.394C>T (p.Arg132Cys) rs148523065
NM_001128227.2(GNE):c.398T>C (p.Leu133Pro) rs760704097
NM_001128227.2(GNE):c.3G>A (p.Met1Ile) rs1554668704
NM_001128227.2(GNE):c.410T>C (p.Ile137Thr) rs773920008
NM_001128227.2(GNE):c.422A>G (p.His141Arg) rs886043739
NM_001128227.2(GNE):c.43G>C (p.Gly15Arg) rs762425552
NM_001128227.2(GNE):c.4G>A (p.Glu2Lys) rs1403279875
NM_001128227.2(GNE):c.52-3C>T
NM_001128227.2(GNE):c.548A>C (p.Lys183Thr) rs1157107103
NM_001128227.2(GNE):c.559T>C (p.Tyr187His) rs794727505
NM_001128227.2(GNE):c.574A>G (p.Thr192Ala) rs1292723201
NM_001128227.2(GNE):c.580A>G (p.Ser194Gly) rs752740158
NM_001128227.2(GNE):c.594C>T (p.His198=) rs1554663342
NM_001128227.2(GNE):c.661C>T (p.Leu221Phe) rs886042560
NM_001128227.2(GNE):c.691A>T (p.Ile231Phe) rs369328625
NM_001128227.2(GNE):c.700A>G (p.Met234Val)
NM_001128227.2(GNE):c.709G>A (p.Gly237Ser) rs766266918
NM_001128227.2(GNE):c.716_718delATG (p.Asp239del) rs1554661574
NM_001128227.2(GNE):c.731A>T (p.Asp244Val) rs1554661565
NM_001128227.2(GNE):c.766G>A (p.Asp256Asn) rs121908630
NM_001128227.2(GNE):c.788T>C (p.Met263Thr) rs761468890
NM_001128227.2(GNE):c.78A>T (p.Lys26Asn)
NM_001128227.2(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.2(GNE):c.7del (p.Thr3Profs)
NM_001128227.2(GNE):c.803T>C (p.Leu268Ser) rs886043407
NM_001128227.2(GNE):c.804G>A (p.Leu268=) rs724159957
NM_001128227.2(GNE):c.804G>C (p.Leu268Phe) rs724159957
NM_001128227.2(GNE):c.815T>G (p.Ile272Ser) rs759945787
NM_001128227.2(GNE):c.819A>G (p.Ser273=)
NM_001128227.2(GNE):c.82_83dup (p.Asn28Lysfs) rs1554664095
NM_001128227.2(GNE):c.841C>A (p.Leu281Met) rs886042585
NM_001128227.2(GNE):c.862+4dupA rs756817842
NM_001128227.2(GNE):c.897G>A (p.Lys299=) rs141814943
NM_001128227.2(GNE):c.936C>T (p.His312=) rs138694766
NM_001128227.2(GNE):c.944T>C (p.Phe315Ser)
NM_001128227.2(GNE):c.95T>C (p.Met32Thr) rs1554664086
NM_001128227.2(GNE):c.983T>C (p.Met328Thr)
NM_001190388.1(GNE):c.34C>A (p.Pro12Thr) rs1479837278
NM_001190388.1(GNE):c.95C>T (p.Ser32Leu) rs769506627
NM_001190388.1(GNE):c.96G>A (p.Ser32=) rs368762704
NM_005476.5(GNE):c.*1032_*1037delCACACA rs10527967
NM_005476.5(GNE):c.*1575C>T rs761447556
NM_005476.5(GNE):c.*1694G>C rs886063918
NM_005476.5(GNE):c.*1728C>T rs41277097
NM_005476.5(GNE):c.*208T>C rs771508931
NM_005476.5(GNE):c.*2410G>C rs886063917
NM_005476.5(GNE):c.*2448A>G rs757287887
NM_005476.5(GNE):c.*2679G>A rs566044462
NM_005476.5(GNE):c.*2766T>C rs886063916
NM_005476.5(GNE):c.*2847T>C rs886063915
NM_005476.5(GNE):c.*2877T>C rs886063914
NM_005476.5(GNE):c.*2905_*2906delAA rs886063913
NM_005476.5(GNE):c.*446C>T rs886063924
NM_005476.5(GNE):c.*513G>A rs886063923
NM_005476.5(GNE):c.*554G>A rs755277976
NM_005476.5(GNE):c.*691A>T rs10972791
NM_005476.5(GNE):c.*693A>T rs886063922
NM_005476.5(GNE):c.*694T>A rs867926432
NM_005476.5(GNE):c.*719_*724delAATAAT rs113316798
NM_005476.5(GNE):c.*722_*724delAAT rs113316798
NM_005476.5(GNE):c.-189C>T rs886063928
NM_005476.5(GNE):c.-216C>T rs886063929
NM_005476.5(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.5(GNE):c.1281+6A>T rs201025841
NM_005476.5(GNE):c.1816+11delC rs886063925
NM_005476.5(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.5(GNE):c.612G>A (p.Trp204Ter) rs786204476
NM_005476.5(GNE):c.769+4A>G rs886063926
NM_005476.6(GNE):c.*1020_*1037dup rs10527967
NM_005476.6(GNE):c.*1032_*1037dup rs10527967
NM_005476.6(GNE):c.*1034_*1037dup rs10527967
NM_005476.6(GNE):c.*1036_*1037dup rs10527967
NM_005476.6(GNE):c.*702dup rs886063921
NM_005476.6(GNE):c.*719_*724dup rs113316798
NM_005476.6(GNE):c.*722_*724dup rs113316798
NM_005476.6(GNE):c.1412G>A (p.Gly471Asp) rs1439999698
NM_005476.6(GNE):c.1638C>T (p.Ile546=) rs147768211
NM_005476.6(GNE):c.1771G>A (p.Ala591Thr) rs752286512
NM_005476.6(GNE):c.2096C>T (p.Ser699Leu)
NM_005476.6(GNE):c.783G>T (p.Met261Ile) rs1554661095
NM_005476.6(GNE):c.829C>G (p.Arg277Gly) rs762106720

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