ClinVar Miner

List of variants studied for GNE myopathy

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ClinVar version:
Total variants: 331
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HGVS dbSNP gnomAD frequency
NM_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_005476.7(GNE):c.*2391C>T rs1043313 0.71766
NM_005476.7(GNE):c.*1781G>A rs16933086 0.17302
NM_005476.7(GNE):c.1817-81G>C rs2296817 0.15990
NM_005476.7(GNE):c.*691A>T rs10972791 0.11652
NM_005476.7(GNE):c.*1826G>C rs7044157 0.10230
NM_005476.7(GNE):c.*630C>T rs150102934 0.03992
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_005476.7(GNE):c.*1054C>A rs7048468 0.01927
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_005476.7(GNE):c.*74G>A rs16933089 0.01338
NM_005476.7(GNE):c.*2211C>G rs150978860 0.01319
NM_005476.7(GNE):c.-65G>A rs138897916 0.00463
NM_001128227.3(GNE):c.51+63A>G rs185045598 0.00436
NM_005476.7(GNE):c.*1068A>T rs187875852 0.00423
NM_005476.7(GNE):c.*583G>A rs182741472 0.00279
NM_005476.7(GNE):c.*1660A>G rs185870650 0.00237
NM_005476.7(GNE):c.*2056C>T rs183641957 0.00160
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_005476.7(GNE):c.-102G>C rs1053014986 0.00095
NM_005476.7(GNE):c.*1635G>A rs190727651 0.00080
NM_005476.7(GNE):c.*1728C>T rs41277097 0.00070
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005476.7(GNE):c.*2576A>G rs531142218 0.00063
NM_005476.7(GNE):c.*2679G>A rs566044462 0.00058
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137 0.00038
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610 0.00036
NM_005476.7(GNE):c.*446C>T rs886063924 0.00033
NM_005476.7(GNE):c.*2789G>A rs140396892 0.00026
NM_005476.7(GNE):c.*582A>G rs999645453 0.00026
NM_005476.7(GNE):c.-152G>T rs142004500 0.00026
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_005476.7(GNE):c.1933+3G>A rs370730412 0.00021
NM_005476.7(GNE):c.*1575C>T rs761447556 0.00019
NM_005476.7(GNE):c.*208T>C rs771508931 0.00019
NM_005476.7(GNE):c.*1007G>A rs1192808563 0.00017
NM_005476.7(GNE):c.*2415T>A rs143569888 0.00017
NM_005476.7(GNE):c.*2847T>C rs886063915 0.00016
NM_005476.7(GNE):c.*1038T>C rs975309543 0.00014
NM_005476.7(GNE):c.*2269C>T rs575299401 0.00014
NM_005476.7(GNE):c.21C>T (p.Asn7=) rs774610596 0.00014
NM_005476.7(GNE):c.*2877T>C rs886063914 0.00013
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_005476.7(GNE):c.*252A>C rs745365886 0.00012
NM_005476.7(GNE):c.*2537G>A rs1042849497 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804 0.00009
NM_005476.7(GNE):c.*2448A>G rs757287887 0.00008
NM_005476.7(GNE):c.1412-5C>T rs369078814 0.00008
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408 0.00008
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388 0.00007
NM_005476.7(GNE):c.*573G>A rs1032415165 0.00006
NM_005476.7(GNE):c.1070+5G>A rs374170125 0.00006
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654 0.00006
NM_005476.7(GNE):c.*872C>T rs1008750814 0.00005
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_005476.7(GNE):c.*1204T>C rs183365416 0.00004
NM_005476.7(GNE):c.*554G>A rs755277976 0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039 0.00004
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys) rs551854437 0.00004
NM_005476.7(GNE):c.1572G>A (p.Ala524=) rs112824871 0.00004
NM_005476.7(GNE):c.1767A>G (p.Ala589=) rs777310871 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005476.7(GNE):c.725C>T (p.Ser242Leu) rs771167726 0.00004
NM_005476.7(GNE):c.828T>C (p.Phe276=) rs770346895 0.00004
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg) rs762425552 0.00003
NM_005476.7(GNE):c.*2245A>T rs1193929989 0.00003
NM_005476.7(GNE):c.*512C>T rs537851886 0.00003
NM_005476.7(GNE):c.-51C>T rs368282013 0.00003
NM_005476.7(GNE):c.1070+7A>G rs149675783 0.00003
NM_005476.7(GNE):c.1413C>T (p.Gly471=) rs142836733 0.00003
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter) rs1212623980 0.00003
NM_005476.7(GNE):c.1634-4G>T rs1021602666 0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.1816+4G>C rs760700813 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.1907C>T (p.Ala636Val) rs756488394 0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile) rs768384042 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_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816 0.00002
NM_005476.7(GNE):c.*2431A>G rs917794045 0.00002
NM_005476.7(GNE):c.*2766T>C rs886063916 0.00002
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.1130del (p.Ile377fs) rs982936794 0.00002
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu) rs201808007 0.00002
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr) rs369119154 0.00002
NM_005476.7(GNE):c.1681T>G (p.Ser561Ala) rs776760528 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.2029C>T (p.His677Tyr) rs527267621 0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His) rs144727134 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_001128227.3(GNE):c.52-9097C>T rs886063929 0.00001
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn) rs767777879 0.00001
NM_005476.7(GNE):c.*1021A>G rs10435799 0.00001
NM_005476.7(GNE):c.*2453C>A rs1163596916 0.00001
NM_005476.7(GNE):c.*2550G>A rs191345940 0.00001
NM_005476.7(GNE):c.*2709T>C rs1390610132 0.00001
NM_005476.7(GNE):c.*513G>A rs886063923 0.00001
NM_005476.7(GNE):c.1250C>T (p.Thr417Met) rs1554659711 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) rs747199032 0.00001
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836 0.00001
NM_005476.7(GNE):c.1310T>C (p.Phe437Ser) rs370478702 0.00001
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys) rs1337925138 0.00001
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210 0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798 0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377 0.00001
NM_005476.7(GNE):c.1634-8C>T rs756876449 0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272 0.00001
NM_005476.7(GNE):c.165-8G>A rs918998080 0.00001
NM_005476.7(GNE):c.1666T>C (p.Leu556=) rs765440649 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu) rs121908625 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.2003C>T (p.Ser668Phe) rs1258671706 0.00001
NM_005476.7(GNE):c.2008G>T (p.Val670Phe) rs746449874 0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His) rs1191857860 0.00001
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588 0.00001
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282 0.00001
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682 0.00001
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr) rs201216576 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505 0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys) rs539332585 0.00001
NM_005476.7(GNE):c.530G>A (p.Arg177His) rs772597073 0.00001
NM_005476.7(GNE):c.572C>G (p.Ser191Ter) rs1357906793 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
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
GRCh37/hg19 9p13.3(chr9:36227245-36227455)
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
NM_001128227.2(GNE):c.-60_-59delAA rs751222162
NM_001128227.2(GNE):c.-97T>G rs757093701
NM_001128227.2(GNE):c.1376delG rs1057516705
NM_001128227.3(GNE):c.3G>A (p.Met1Ile) rs1554668704
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys) rs1403279875
NM_001128227.3(GNE):c.52-9070C>T rs886063928
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
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.*1012CA[10] rs10527967
NM_005476.7(GNE):c.*1012CA[14] rs10527967
NM_005476.7(GNE):c.*1012CA[15] rs10527967
NM_005476.7(GNE):c.*1012CA[16] rs10527967
NM_005476.7(GNE):c.*1012CA[22] rs10527967
NM_005476.7(GNE):c.*1127C>T rs1828268117
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*1854C>T rs1828233358
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2185T>A rs1828216707
NM_005476.7(GNE):c.*2196dup rs199874473
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*277ATA[1] rs140089561
NM_005476.7(GNE):c.*2905_*2906del rs886063913
NM_005476.7(GNE):c.*292C>G rs1335595008
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*663A>G rs1373838375
NM_005476.7(GNE):c.*690T>A rs10972792
NM_005476.7(GNE):c.*692AAT[10] rs113316798
NM_005476.7(GNE):c.*692AAT[12] rs113316798
NM_005476.7(GNE):c.*692AAT[13] rs113316798
NM_005476.7(GNE):c.*692AAT[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.*936C>T rs56974443
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.*988G>C rs916769105
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter) rs983424324
NM_005476.7(GNE):c.1026_1027del (p.Lys342fs)
NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter) rs1829027066
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn) rs1554660095
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu) rs1554660090
NM_005476.7(GNE):c.1075A>T (p.Lys359Ter) rs1828929851
NM_005476.7(GNE):c.1099G>A (p.Val367Ile) rs1554659769
NM_005476.7(GNE):c.1113_1114delinsT (p.Leu371fs)
NM_005476.7(GNE):c.1132G>C (p.Asp378His) rs199877522
NM_005476.7(GNE):c.1153A>T (p.Lys385Ter) rs1828921198
NM_005476.7(GNE):c.1158del (p.Lys386fs) rs1057516275
NM_005476.7(GNE):c.1220dup (p.Ser408fs) rs2133041569
NM_005476.7(GNE):c.1222del (p.Ser408fs)
NM_005476.7(GNE):c.1229T>A (p.Leu410Ter) rs1828914261
NM_005476.7(GNE):c.1262T>C (p.Val421Ala) rs1057516364
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg) rs1313840587
NM_005476.7(GNE):c.1281+13C>A rs1022557448
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter) rs1828703342
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys) rs1447770049
NM_005476.7(GNE):c.1305del (p.Gln436fs)
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1312A>G (p.Asn438Asp) rs2133024785
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) rs1554659040
NM_005476.7(GNE):c.1379C>T (p.Ala460Val) rs121908631
NM_005476.7(GNE):c.1411+1del rs1057516597
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp) rs1439999698
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn) rs1563930321
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
NM_005476.7(GNE):c.1510dup (p.Leu504fs) rs1828669338
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu) rs1414079876
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs) rs1057516657
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
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.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1609T>C (p.Phe537Leu)
NM_005476.7(GNE):c.1609_1616del (p.Phe537fs) rs1057516340
NM_005476.7(GNE):c.1634-1G>T
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.1643del (p.Gly548fs) rs2133007268
NM_005476.7(GNE):c.165-1del
NM_005476.7(GNE):c.1655A>G (p.His552Arg)
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1730C>G (p.Pro577Arg) rs1828512489
NM_005476.7(GNE):c.1730C>T (p.Pro577Leu) rs1828512489
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.1768T>A (p.Tyr590Asn)
NM_005476.7(GNE):c.1781del (p.Met594fs) rs1057517157
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)
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+11del rs886063925
NM_005476.7(GNE):c.182_185del (p.Ile61fs)
NM_005476.7(GNE):c.1868del (p.Gly623fs)
NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)
NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)
NM_005476.7(GNE):c.1949G>A (p.Gly650Asp) rs1299435942
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser) rs765173992
NM_005476.7(GNE):c.2050C>A (p.Arg684Ser) rs139347806
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
NM_005476.7(GNE):c.2056C>T (p.Gln686Ter)
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.2088GGT[1] (p.Val698del) rs1554657956
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr) rs1828371895
NM_005476.7(GNE):c.2112_2117delinsAAATCCAGCTG (p.Ala705fs)
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser) rs1554657922
NM_005476.7(GNE):c.2130_2133del (p.Ser711fs)
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
NM_005476.7(GNE):c.27G>C (p.Lys9Asn)
NM_005476.7(GNE):c.2T>C (p.Met1Thr) rs1554664086
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
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.392T>C (p.Leu131Pro)
NM_005476.7(GNE):c.397_398dup (p.Glu134fs) rs1829869628
NM_005476.7(GNE):c.435_438del (p.Ile146fs) rs1057516915
NM_005476.7(GNE):c.445G>T (p.Ala149Ser) rs1563946658
NM_005476.7(GNE):c.448A>G (p.Ile150Val) rs758814313
NM_005476.7(GNE):c.452C>A (p.Thr151Lys)
NM_005476.7(GNE):c.469C>A (p.His157Asn) rs1587339749
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.496C>T (p.Gln166Ter)
NM_005476.7(GNE):c.498G>C (p.Gln166His) rs1829863461
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.503T>C (p.Leu168Pro)
NM_005476.7(GNE):c.511A>G (p.Met171Val) rs121908634
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
NM_005476.7(GNE):c.571_572del (p.Ala192fs)
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.605G>C (p.Arg202Pro)
NM_005476.7(GNE):c.616+1del rs1554663295
NM_005476.7(GNE):c.616G>A (p.Gly206Ser) rs766266918
NM_005476.7(GNE):c.617-1G>A rs1256419231
NM_005476.7(GNE):c.617-2A>G rs1554661582
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.630dup (p.Ser211fs) rs1554661569
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.640del (p.Tyr214fs) rs1554661561
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.669_675del (p.Thr224fs)
NM_005476.7(GNE):c.680dup (p.His228fs) rs1554661552
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.6GAA[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.723_727del (p.Ile241_Ser242insTer) rs2133078032
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.753T>C (p.Phe251=) rs370479900
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_005476.7(GNE):c.787C>T (p.Arg263Ter) rs200643106
NM_005476.7(GNE):c.794T>C (p.Met265Thr) rs2133068813
NM_005476.7(GNE):c.79C>T (p.Pro27Ser) rs1554664064
NM_005476.7(GNE):c.811G>T (p.Glu271Ter) rs1829294478
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.878A>G (p.His293Arg)
NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val) rs121908633
NM_005476.7(GNE):c.909T>A (p.Cys303Ter) rs121908628
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.926dup (p.Ala310fs)
NM_005476.7(GNE):c.934_937del (p.Gly312fs)
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032
NM_005476.7(GNE):c.955G>T (p.Gly319Ter) rs1829284405
NM_005476.7(GNE):c.961C>T (p.Arg321Cys) rs1554661030
NM_005476.7(GNE):c.982+2T>A rs2133067872
NM_005476.7(GNE):c.992T>G (p.Val331Gly) rs1554660119
NM_005476.7(GNE):c.[2086G>A];[385C>T]

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