ClinVar Miner

List of variants in gene GNE reported as uncertain significance for disorder of multiple glycosylation

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 377
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.*691A>T rs10972791 0.11652
NM_005476.7(GNE):c.*1660A>G rs185870650 0.00237
NM_005476.7(GNE):c.-102G>C rs1053014986 0.00095
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.*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.*582A>G rs999645453 0.00026
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.*2847T>C rs886063915 0.00016
NM_005476.7(GNE):c.*1038T>C rs975309543 0.00014
NM_005476.7(GNE):c.*2877T>C rs886063914 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.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.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_005476.7(GNE):c.23G>A (p.Arg8Gln) rs763057654 0.00005
NM_001128227.3(GNE):c.80G>A (p.Arg27Gln) rs759799606 0.00004
NM_005476.7(GNE):c.*554G>A rs755277976 0.00004
NM_005476.7(GNE):c.1129A>G (p.Ile377Val) rs776568062 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.305T>C (p.Leu102Pro) rs760704097 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 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.1070+7A>G rs149675783 0.00003
NM_005476.7(GNE):c.1156A>C (p.Lys386Gln) rs1180382282 0.00003
NM_005476.7(GNE):c.1413C>T (p.Gly471=) rs142836733 0.00003
NM_005476.7(GNE):c.1634-4G>T rs1021602666 0.00003
NM_005476.7(GNE):c.1816+4G>C rs760700813 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.673G>A (p.Asp225Asn) rs121908630 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.1246G>A (p.Gly416Arg) rs866841518 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1408G>C (p.Val470Leu) rs749320547 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.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.2029C>T (p.His677Tyr) rs527267621 0.00002
NM_005476.7(GNE):c.604C>T (p.Arg202Cys) rs756309840 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.*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.1081T>C (p.Tyr361His) rs1192630467 0.00001
NM_005476.7(GNE):c.1117T>G (p.Phe373Val) rs794727868 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.1259G>A (p.Arg420Gln) rs780092539 0.00001
NM_005476.7(GNE):c.1276A>C (p.Met426Leu) rs750404513 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.1313A>T (p.Asn438Ile) rs772723683 0.00001
NM_005476.7(GNE):c.1325A>G (p.Tyr442Cys) rs1214437751 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.1430G>A (p.Arg477His) rs776109807 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.1666T>C (p.Leu556=) rs765440649 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1709T>C (p.Leu570Pro) rs775369694 0.00001
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu) rs121908625 0.00001
NM_005476.7(GNE):c.1742G>T (p.Cys581Phe) rs756926638 0.00001
NM_005476.7(GNE):c.1769A>G (p.Tyr590Cys) rs1363913351 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.2071G>A (p.Val691Met) rs763775540 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.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.455A>C (p.Lys152Thr) rs1157107103 0.00001
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505 0.00001
NM_005476.7(GNE):c.485G>A (p.Arg162His) rs747640708 0.00001
NM_005476.7(GNE):c.526G>A (p.Asp176Asn) rs774229314 0.00001
NM_005476.7(GNE):c.530G>A (p.Arg177His) rs772597073 0.00001
NM_005476.7(GNE):c.565C>T (p.Leu189Phe) rs567208272 0.00001
NM_005476.7(GNE):c.594G>A (p.Met198Ile) rs1587339231 0.00001
NM_005476.7(GNE):c.608T>C (p.Met203Thr) rs767519361 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005476.7(GNE):c.766G>A (p.Ala256Thr) rs375740268 0.00001
NM_005476.7(GNE):c.77C>G (p.Ala26Gly) rs1266233810 0.00001
NC_000009.11:g.(?_36217362)_(36276941_?)dup
NC_000009.11:g.(?_36276871)_(36277059_?)dup
NC_000009.11:g.(?_36276881)_(36277049_?)dup
NM_001128227.2(GNE):c.-60_-59delAA rs751222162
NM_001128227.2(GNE):c.-97T>G rs757093701
NM_001128227.3(GNE):c.26G>C (p.Arg9Thr)
NM_001128227.3(GNE):c.32C>T (p.Ser11Leu)
NM_001128227.3(GNE):c.36C>G (p.Cys12Trp) rs2133208588
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.50A>T (p.His17Leu) rs2133208557
NM_001128227.3(GNE):c.52-9070C>T rs886063928
NM_001128227.3(GNE):c.52G>A (p.Glu18Lys)
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.7A>G (p.Thr3Ala)
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001128227.3(GNE):c.86A>C (p.Lys29Thr)
NM_001128227.3(GNE):c.88C>A (p.Gln30Lys)
NM_001128227.3(GNE):c.91A>G (p.Ile31Val)
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.*2185T>A rs1828216707
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*2905_*2906del rs886063913
NM_005476.7(GNE):c.*292C>G rs1335595008
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.*988G>C rs916769105
NM_005476.7(GNE):c.-42-3C>T rs764657091
NM_005476.7(GNE):c.1016C>T (p.Thr339Ile)
NM_005476.7(GNE):c.101C>G (p.Thr34Ser)
NM_005476.7(GNE):c.101C>T (p.Thr34Ile)
NM_005476.7(GNE):c.1020A>C (p.Gln340His) rs747807631
NM_005476.7(GNE):c.1029A>G (p.Ile343Met) rs1829027391
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>C (p.Lys359Gln)
NM_005476.7(GNE):c.1078A>T (p.Ile360Leu)
NM_005476.7(GNE):c.107C>A (p.Pro36His)
NM_005476.7(GNE):c.1082A>T (p.Tyr361Phe)
NM_005476.7(GNE):c.1097C>A (p.Ala366Asp) rs1442235130
NM_005476.7(GNE):c.1099G>A (p.Val367Ile) rs1554659769
NM_005476.7(GNE):c.1124A>C (p.Lys375Thr) rs1828924556
NM_005476.7(GNE):c.1124A>T (p.Lys375Ile)
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro) rs1554659760
NM_005476.7(GNE):c.1127C>T (p.Ser376Phe)
NM_005476.7(GNE):c.112T>C (p.Phe38Leu)
NM_005476.7(GNE):c.1134T>A (p.Asp378Glu)
NM_005476.7(GNE):c.114C>G (p.Phe38Leu) rs921673560
NM_005476.7(GNE):c.1158A>T (p.Lys386Asn) rs1828920194
NM_005476.7(GNE):c.1162T>C (p.Cys388Arg) rs2133041837
NM_005476.7(GNE):c.1165T>C (p.Phe389Leu)
NM_005476.7(GNE):c.1185T>A (p.Asn395Lys)
NM_005476.7(GNE):c.118G>A (p.Glu40Lys)
NM_005476.7(GNE):c.1220T>C (p.Leu407Pro)
NM_005476.7(GNE):c.1231G>C (p.Ala411Pro)
NM_005476.7(GNE):c.1235T>C (p.Val412Ala)
NM_005476.7(GNE):c.1264G>A (p.Ala422Thr) rs1828910974
NM_005476.7(GNE):c.1264G>C (p.Ala422Pro)
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg) rs1313840587
NM_005476.7(GNE):c.1276A>G (p.Met426Val) rs750404513
NM_005476.7(GNE):c.1277T>C (p.Met426Thr)
NM_005476.7(GNE):c.1281+13C>A rs1022557448
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1282-17_1282-16insGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282G>A (p.Gly428Ser) rs767409392
NM_005476.7(GNE):c.1285G>A (p.Glu429Lys) rs1828703850
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys) rs1447770049
NM_005476.7(GNE):c.1304C>T (p.Thr435Ile) rs1563930778
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.1345A>G (p.Ile449Val)
NM_005476.7(GNE):c.1361T>C (p.Val454Ala) rs2133024315
NM_005476.7(GNE):c.1369G>A (p.Ala457Thr) rs2133024204
NM_005476.7(GNE):c.1373C>T (p.Ala458Val)
NM_005476.7(GNE):c.1377A>C (p.Glu459Asp)
NM_005476.7(GNE):c.1387C>G (p.Leu463Val)
NM_005476.7(GNE):c.1411G>A (p.Gly471Ser) rs2133023974
NM_005476.7(GNE):c.1414A>G (p.Ile472Val)
NM_005476.7(GNE):c.1426G>A (p.Gly476Ser) rs2133022363
NM_005476.7(GNE):c.1427G>T (p.Gly476Val) rs1828675355
NM_005476.7(GNE):c.1441C>T (p.Arg481Trp)
NM_005476.7(GNE):c.1447G>A (p.Gly483Arg) rs2133022218
NM_005476.7(GNE):c.1460A>G (p.His487Arg)
NM_005476.7(GNE):c.1466C>T (p.Thr489Ile)
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn) rs1563930321
NM_005476.7(GNE):c.1476C>G (p.Ile492Met)
NM_005476.7(GNE):c.1479A>C (p.Gln493His)
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
NM_005476.7(GNE):c.1508C>G (p.Pro503Arg)
NM_005476.7(GNE):c.1510C>G (p.Leu504Val)
NM_005476.7(GNE):c.1520C>T (p.Thr507Ile)
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu) rs1414079876
NM_005476.7(GNE):c.1532_1533delinsAA (p.Pro511Gln) rs1828666773
NM_005476.7(GNE):c.1534G>T (p.Val512Leu) rs1279384333
NM_005476.7(GNE):c.1546A>C (p.Asn516His) rs1563930141
NM_005476.7(GNE):c.1564G>T (p.Ala522Ser) rs2133021306
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.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1594A>G (p.Lys532Glu)
NM_005476.7(GNE):c.1609T>C (p.Phe537Leu)
NM_005476.7(GNE):c.1613T>C (p.Val538Ala)
NM_005476.7(GNE):c.1632A>G (p.Thr544=) rs2133020714
NM_005476.7(GNE):c.1633+6_1633+7del rs764024703
NM_005476.7(GNE):c.1633G>A (p.Gly545Arg) rs1024068004
NM_005476.7(GNE):c.1634-13T>G
NM_005476.7(GNE):c.1634-3T>C rs2133007346
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.1655A>G (p.His552Arg)
NM_005476.7(GNE):c.1664A>C (p.Glu555Ala)
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1678A>C (p.Ser560Arg)
NM_005476.7(GNE):c.1684T>G (p.Phe562Val)
NM_005476.7(GNE):c.1703G>C (p.Gly568Ala) rs1419793175
NM_005476.7(GNE):c.1708C>G (p.Leu570Val)
NM_005476.7(GNE):c.1717T>A (p.Ser573Thr) rs2133006773
NM_005476.7(GNE):c.1723G>C (p.Asp575His)
NM_005476.7(GNE):c.172T>C (p.Tyr58His)
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.1732G>C (p.Asp578His)
NM_005476.7(GNE):c.1759A>G (p.Ile587Val)
NM_005476.7(GNE):c.1762G>A (p.Glu588Lys) rs2133006485
NM_005476.7(GNE):c.1768T>A (p.Tyr590Asn)
NM_005476.7(GNE):c.176G>A (p.Arg59Gln) rs1829880006
NM_005476.7(GNE):c.1775_1786del (p.Ser592_Ala595del) rs1828507134
NM_005476.7(GNE):c.1804A>C (p.Lys602Gln) rs2133006002
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.1816+3_1816+6del rs1828502461
NM_005476.7(GNE):c.1816+4G>T
NM_005476.7(GNE):c.1831G>A (p.Val611Met) rs2132997717
NM_005476.7(GNE):c.1858G>A (p.Glu620Lys)
NM_005476.7(GNE):c.185A>C (p.Glu62Ala) rs2133114144
NM_005476.7(GNE):c.1882A>C (p.Ile628Leu)
NM_005476.7(GNE):c.1897C>A (p.Leu633Ile)
NM_005476.7(GNE):c.190G>C (p.Asp64His) rs2133114110
NM_005476.7(GNE):c.1911G>T (p.Lys637Asn)
NM_005476.7(GNE):c.1921A>G (p.Ile641Val) rs2132996877
NM_005476.7(GNE):c.1937G>C (p.Gly646Ala) rs1291163446
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.1985C>T (p.Pro662Leu)
NM_005476.7(GNE):c.2024A>G (p.Tyr675Cys)
NM_005476.7(GNE):c.2033T>C (p.Ile678Thr)
NM_005476.7(GNE):c.2038A>G (p.Lys680Glu)
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.2051G>A (p.Arg684His)
NM_005476.7(GNE):c.2066C>T (p.Ser689Phe)
NM_005476.7(GNE):c.2080G>A (p.Val694Met)
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.208A>G (p.Thr70Ala)
NM_005476.7(GNE):c.2093T>C (p.Val698Ala) rs1587270856
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr) rs1828371895
NM_005476.7(GNE):c.2105T>A (p.Val702Asp)
NM_005476.7(GNE):c.2109C>A (p.Asp703Glu)
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2129C>T (p.Ala710Val)
NM_005476.7(GNE):c.212G>A (p.Arg71Lys)
NM_005476.7(GNE):c.2150C>G (p.Thr717Arg)
NM_005476.7(GNE):c.225_227del (p.Ile75_Val76delinsMet) rs1156580753
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
NM_005476.7(GNE):c.247G>A (p.Ala83Thr) rs1482972274
NM_005476.7(GNE):c.253G>A (p.Val85Met)
NM_005476.7(GNE):c.257A>C (p.Glu86Ala) rs2133113605
NM_005476.7(GNE):c.265G>A (p.Gly89Ser) rs1829875828
NM_005476.7(GNE):c.27G>C (p.Lys9Asn)
NM_005476.7(GNE):c.29T>C (p.Leu10Pro) rs1830024227
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.323T>C (p.Ile108Thr) rs2133113113
NM_005476.7(GNE):c.325G>A (p.Val109Ile) rs2133113097
NM_005476.7(GNE):c.329A>G (p.His110Arg) rs886043739
NM_005476.7(GNE):c.350T>C (p.Leu117Pro)
NM_005476.7(GNE):c.385C>G (p.Arg129Gly)
NM_005476.7(GNE):c.392T>C (p.Leu131Pro)
NM_005476.7(GNE):c.425T>C (p.Ile142Thr) rs1829868500
NM_005476.7(GNE):c.428A>G (p.Asp143Gly)
NM_005476.7(GNE):c.436A>G (p.Ile146Val) rs2133112591
NM_005476.7(GNE):c.43G>A (p.Ala15Thr) rs2133126317
NM_005476.7(GNE):c.443A>G (p.His148Arg)
NM_005476.7(GNE):c.452C>A (p.Thr151Lys)
NM_005476.7(GNE):c.467A>G (p.Tyr156Cys) rs2133112366
NM_005476.7(GNE):c.469C>A (p.His157Asn) rs1587339749
NM_005476.7(GNE):c.46A>G (p.Thr16Ala)
NM_005476.7(GNE):c.498G>C (p.Gln166His) rs1829863461
NM_005476.7(GNE):c.501C>A (p.His167Gln) rs1554663342
NM_005476.7(GNE):c.512T>C (p.Met171Thr)
NM_005476.7(GNE):c.548G>C (p.Cys183Ser)
NM_005476.7(GNE):c.55C>T (p.Arg19Cys)
NM_005476.7(GNE):c.574G>A (p.Ala192Thr)
NM_005476.7(GNE):c.581A>G (p.Asn194Ser)
NM_005476.7(GNE):c.586G>C (p.Asp196His) rs2133111701
NM_005476.7(GNE):c.597C>A (p.Ser199Arg)
NM_005476.7(GNE):c.602T>A (p.Ile201Asn) rs1829857314
NM_005476.7(GNE):c.605G>A (p.Arg202His)
NM_005476.7(GNE):c.605G>C (p.Arg202Pro)
NM_005476.7(GNE):c.607A>G (p.Met203Val) rs1269845468
NM_005476.7(GNE):c.616+3A>G
NM_005476.7(GNE):c.616+4C>T
NM_005476.7(GNE):c.616+5G>A
NM_005476.7(GNE):c.617G>A (p.Gly206Asp)
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.623A>C (p.Asp208Ala)
NM_005476.7(GNE):c.638A>T (p.Asp213Val) rs1554661565
NM_005476.7(GNE):c.688A>G (p.Ile230Val)
NM_005476.7(GNE):c.695T>C (p.Met232Thr) rs761468890
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.721A>C (p.Ile241Leu) rs763729254
NM_005476.7(GNE):c.734A>C (p.Lys245Thr)
NM_005476.7(GNE):c.737G>T (p.Arg246Leu) rs121908629
NM_005476.7(GNE):c.73C>T (p.Leu25Phe) rs373398528
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.749T>A (p.Leu250Gln)
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.76_77delinsTT (p.Ala26Phe)
NM_005476.7(GNE):c.788G>A (p.Arg263Gln)
NM_005476.7(GNE):c.794T>C (p.Met265Thr) rs2133068813
NM_005476.7(GNE):c.795G>T (p.Met265Ile) rs1829295633
NM_005476.7(GNE):c.820C>G (p.Pro274Ala)
NM_005476.7(GNE):c.830G>A (p.Arg277His)
NM_005476.7(GNE):c.844G>A (p.Val282Ile)
NM_005476.7(GNE):c.851T>C (p.Phe284Ser) rs1563938450
NM_005476.7(GNE):c.85A>G (p.Met29Val) rs1830021401
NM_005476.7(GNE):c.862A>G (p.Ile288Val)
NM_005476.7(GNE):c.884G>C (p.Gly295Ala)
NM_005476.7(GNE):c.884G>T (p.Gly295Val)
NM_005476.7(GNE):c.887G>A (p.Cys296Tyr)
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005476.7(GNE):c.934G>A (p.Gly312Arg)
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032
NM_005476.7(GNE):c.965A>G (p.Gln322Arg) rs2133067920
NM_005476.7(GNE):c.976G>A (p.Glu326Lys) rs2133067896
NM_005476.7(GNE):c.980C>T (p.Thr327Ile)
NM_005476.7(GNE):c.982+3del rs1587313110
NM_005476.7(GNE):c.982+6T>C rs2133067848
NM_005476.7(GNE):c.992T>G (p.Val331Gly) rs1554660119
NM_005476.7(GNE):c.994C>A (p.Leu332Ile) rs2133049738

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