ClinVar Miner

List of variants reported as likely benign for GNE myopathy; Sialuria

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 360
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HGVS dbSNP gnomAD frequency
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005476.7(GNE):c.1245C>T (p.Gly415=) rs140784655 0.00059
NM_005476.7(GNE):c.165-18A>G rs374105190 0.00038
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.843C>T (p.His281=) rs138694766 0.00023
NM_005476.7(GNE):c.21C>T (p.Asn7=) rs774610596 0.00014
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_005476.7(GNE):c.1620T>C (p.Leu540=) rs774849278 0.00012
NM_005476.7(GNE):c.1634-7G>A rs139442869 0.00012
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.616+20G>C rs111358992 0.00009
NM_005476.7(GNE):c.983-4C>T rs145450498 0.00009
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.1293T>A (p.Val431=) rs143485388 0.00007
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005476.7(GNE):c.-42-18T>C rs1359152687 0.00004
NM_005476.7(GNE):c.1020A>G (p.Gln340=) rs747807631 0.00004
NM_005476.7(GNE):c.1572G>A (p.Ala524=) rs112824871 0.00004
NM_005476.7(GNE):c.1634-13T>C rs375600956 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.726A>G (p.Ser242=) rs763368889 0.00004
NM_005476.7(GNE):c.765C>T (p.Asp255=) rs775805166 0.00004
NM_005476.7(GNE):c.828T>C (p.Phe276=) rs770346895 0.00004
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.1434A>G (p.Val478=) rs1473072355 0.00003
NM_005476.7(GNE):c.1634-4G>T rs1021602666 0.00003
NM_005476.7(GNE):c.2112C>T (p.Pro704=) rs779967033 0.00003
NM_005476.7(GNE):c.1030T>C (p.Leu344=) rs746461207 0.00002
NM_005476.7(GNE):c.1281+19T>C rs1220093810 0.00002
NM_005476.7(GNE):c.1368T>A (p.Ala456=) rs779157758 0.00002
NM_005476.7(GNE):c.1674C>T (p.His558=) rs144931111 0.00002
NM_005476.7(GNE):c.1816+17C>T rs756465454 0.00002
NM_005476.7(GNE):c.2061C>G (p.Ala687=) rs765296741 0.00002
NM_005476.7(GNE):c.207C>T (p.Asn69=) rs781586600 0.00002
NM_005476.7(GNE):c.297T>C (p.Leu99=) rs544304534 0.00002
NM_005476.7(GNE):c.447C>T (p.Ala149=) rs772851707 0.00002
NM_005476.7(GNE):c.903C>T (p.Ser301=) rs777440792 0.00002
NM_001128227.3(GNE):c.12T>C (p.Tyr4=) rs556904933 0.00001
NM_001128227.3(GNE):c.15T>C (p.Gly5=) rs192260997 0.00001
NM_001128227.3(GNE):c.51+12G>A rs374490097 0.00001
NM_001128227.3(GNE):c.51+18C>A rs1370632267 0.00001
NM_005476.7(GNE):c.1008T>C (p.Asp336=) rs762803815 0.00001
NM_005476.7(GNE):c.1017C>A (p.Thr339=) rs769534184 0.00001
NM_005476.7(GNE):c.1131C>T (p.Ile377=) rs764041731 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1287A>G (p.Glu429=) rs377382722 0.00001
NM_005476.7(GNE):c.1317T>C (p.Pro439=) rs773336897 0.00001
NM_005476.7(GNE):c.1411+7T>C rs1828696327 0.00001
NM_005476.7(GNE):c.1464A>G (p.Ser488=) rs771209350 0.00001
NM_005476.7(GNE):c.1633+7G>A rs773608353 0.00001
NM_005476.7(GNE):c.1633+8G>A rs1028353184 0.00001
NM_005476.7(GNE):c.1634-8C>T rs756876449 0.00001
NM_005476.7(GNE):c.1638C>T (p.Ile546=) rs147768211 0.00001
NM_005476.7(GNE):c.1666T>C (p.Leu556=) rs765440649 0.00001
NM_005476.7(GNE):c.1716G>A (p.Val572=) rs1294027346 0.00001
NM_005476.7(GNE):c.1806G>A (p.Lys602=) rs1248336263 0.00001
NM_005476.7(GNE):c.1812T>C (p.His604=) rs541458680 0.00001
NM_005476.7(GNE):c.1893G>A (p.Ala631=) rs770928991 0.00001
NM_005476.7(GNE):c.1933+7A>T rs368100600 0.00001
NM_005476.7(GNE):c.1933+8T>C rs768321445 0.00001
NM_005476.7(GNE):c.1998C>T (p.Ile666=) rs932366819 0.00001
NM_005476.7(GNE):c.2043C>T (p.Asp681=) rs568010488 0.00001
NM_005476.7(GNE):c.2070C>T (p.Ser690=) rs776582567 0.00001
NM_005476.7(GNE):c.2073G>T (p.Val691=) rs760445653 0.00001
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588 0.00001
NM_005476.7(GNE):c.2082G>C (p.Val694=) rs771658438 0.00001
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682 0.00001
NM_005476.7(GNE):c.2119C>T (p.Leu707=) rs750554841 0.00001
NM_005476.7(GNE):c.2151A>G (p.Thr717=) rs760226053 0.00001
NM_005476.7(GNE):c.240T>C (p.Asp80=) rs780405231 0.00001
NM_005476.7(GNE):c.39T>C (p.Cys13=) rs776485443 0.00001
NM_005476.7(GNE):c.462T>A (p.Ala154=) rs778963689 0.00001
NM_005476.7(GNE):c.471T>C (p.His157=) rs757524235 0.00001
NM_005476.7(GNE):c.616+13G>C rs1383533734 0.00001
NM_005476.7(GNE):c.616+18T>C rs906334550 0.00001
NM_005476.7(GNE):c.616+7A>G rs761273110 0.00001
NM_005476.7(GNE):c.741C>T (p.Thr247=) rs770081028 0.00001
NM_005476.7(GNE):c.945G>A (p.Val315=) rs371362663 0.00001
NM_005476.7(GNE):c.975A>G (p.Arg325=) rs758966843 0.00001
NM_005476.7(GNE):c.999T>C (p.His333=) rs1344485866 0.00001
NM_001128227.3(GNE):c.18T>C (p.Tyr6=) rs200763627
NM_001128227.3(GNE):c.24G>A (p.Gln8=) rs190315029
NM_001128227.3(GNE):c.27G>A (p.Arg9=)
NM_001128227.3(GNE):c.30G>A (p.Glu10=) rs780649483
NM_001128227.3(GNE):c.39T>C (p.Phe13=) rs2133208583
NM_001128227.3(GNE):c.48T>A (p.Pro16=)
NM_001128227.3(GNE):c.51+10T>G rs2133208536
NM_001128227.3(GNE):c.51+11C>T
NM_001128227.3(GNE):c.51+12G>C
NM_001128227.3(GNE):c.51+9T>C rs2133208540
NM_001128227.3(GNE):c.57C>G (p.Leu19=) rs1830028025
NM_001128227.3(GNE):c.60T>C (p.Tyr20=) rs2133126743
NM_001128227.3(GNE):c.69C>T (p.Asn23=) rs1158058299
NM_001128227.3(GNE):c.72C>G (p.Leu24=) rs1191809976
NM_001128227.3(GNE):c.75A>G (p.Ser25=)
NM_001128227.3(GNE):c.78A>G (p.Lys26=)
NM_005476.7(GNE):c.-42-6T>C
NM_005476.7(GNE):c.1017C>T (p.Thr339=) rs769534184
NM_005476.7(GNE):c.1023C>T (p.Asp341=) rs768446059
NM_005476.7(GNE):c.102C>A (p.Thr34=)
NM_005476.7(GNE):c.102C>T (p.Thr34=) rs147290887
NM_005476.7(GNE):c.1032G>A (p.Leu344=)
NM_005476.7(GNE):c.1038A>G (p.Ala346=)
NM_005476.7(GNE):c.1039C>T (p.Leu347=) rs2133049484
NM_005476.7(GNE):c.105A>G (p.Glu35=) rs2133126073
NM_005476.7(GNE):c.1071-11del
NM_005476.7(GNE):c.1071-4G>T rs567349676
NM_005476.7(GNE):c.1071-6T>C
NM_005476.7(GNE):c.1111T>C (p.Leu371=) rs1305905839
NM_005476.7(GNE):c.1113G>A (p.Leu371=)
NM_005476.7(GNE):c.111G>A (p.Glu37=)
NM_005476.7(GNE):c.1146A>G (p.Pro382=)
NM_005476.7(GNE):c.1146A>T (p.Pro382=) rs2133041945
NM_005476.7(GNE):c.1149G>A (p.Leu383=)
NM_005476.7(GNE):c.1155G>A (p.Lys385=)
NM_005476.7(GNE):c.1179G>A (p.Lys393=)
NM_005476.7(GNE):c.1191T>G (p.Ser397=)
NM_005476.7(GNE):c.1200T>C (p.Ile400=) rs1173945551
NM_005476.7(GNE):c.1227C>G (p.Ala409=) rs1828914515
NM_005476.7(GNE):c.1233C>T (p.Ala411=) rs1057523203
NM_005476.7(GNE):c.1236T>G (p.Val412=) rs1587294795
NM_005476.7(GNE):c.1245C>A (p.Gly415=) rs140784655
NM_005476.7(GNE):c.1266A>C (p.Ala422=) rs2133041296
NM_005476.7(GNE):c.1269A>T (p.Ile423=) rs1261239311
NM_005476.7(GNE):c.1281+10C>T
NM_005476.7(GNE):c.1281+11T>G
NM_005476.7(GNE):c.1281+11del
NM_005476.7(GNE):c.1281+13C>T
NM_005476.7(GNE):c.1281+15A>G
NM_005476.7(GNE):c.1281+18C>A
NM_005476.7(GNE):c.1281+18C>T
NM_005476.7(GNE):c.1281+8A>G
NM_005476.7(GNE):c.1282-14G>A
NM_005476.7(GNE):c.1282-14_1282-12del
NM_005476.7(GNE):c.1282-15_1282-14insGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-17_1282-16insGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18T>C rs764072134
NM_005476.7(GNE):c.1282-18_1282-17insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG rs778206973
NM_005476.7(GNE):c.1282-18_1282-17insCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-19T>C
NM_005476.7(GNE):c.1282-7C>G
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGGAGTAAAGCAATGTGGCCCAGGCGGGCCTGCGGAGTGGATTTGGGCAAAAACGGCTCAAAGCAANNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-9C>G
NM_005476.7(GNE):c.1302T>C (p.Tyr434=) rs886044498
NM_005476.7(GNE):c.1308G>A (p.Gln436=) rs2133024862
NM_005476.7(GNE):c.1311C>T (p.Phe437=) rs1554659051
NM_005476.7(GNE):c.1323C>A (p.Thr441=) rs2133024607
NM_005476.7(GNE):c.1323C>T (p.Thr441=)
NM_005476.7(GNE):c.1326T>C (p.Tyr442=)
NM_005476.7(GNE):c.1350A>G (p.Leu450=)
NM_005476.7(GNE):c.135A>G (p.Val45=) rs2133125932
NM_005476.7(GNE):c.1362G>C (p.Val454=)
NM_005476.7(GNE):c.1365A>G (p.Glu455=) rs2133024264
NM_005476.7(GNE):c.1387C>T (p.Leu463=)
NM_005476.7(GNE):c.1411+10_1411+11del rs2133023892
NM_005476.7(GNE):c.1411+7T>G
NM_005476.7(GNE):c.1412-20G>C rs751339818
NM_005476.7(GNE):c.1419C>G (p.Ser473=) rs2133022403
NM_005476.7(GNE):c.1461T>C (p.His487=)
NM_005476.7(GNE):c.1467C>T (p.Thr489=) rs1235105944
NM_005476.7(GNE):c.1470A>G (p.Lys490=)
NM_005476.7(GNE):c.1471C>T (p.Leu491=)
NM_005476.7(GNE):c.1476C>T (p.Ile492=)
NM_005476.7(GNE):c.147C>T (p.His49=) rs974552839
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
NM_005476.7(GNE):c.1488C>T (p.Asn496=)
NM_005476.7(GNE):c.1500T>A (p.Leu500=) rs2133021961
NM_005476.7(GNE):c.1509C>A (p.Pro503=)
NM_005476.7(GNE):c.1522T>C (p.Leu508=) rs2133021847
NM_005476.7(GNE):c.1563T>C (p.Ala521=) rs2133021324
NM_005476.7(GNE):c.1569G>C (p.Leu523=)
NM_005476.7(GNE):c.1572G>C (p.Ala524=)
NM_005476.7(GNE):c.1587C>T (p.Gly529=)
NM_005476.7(GNE):c.1590A>G (p.Gln530=) rs2133021114
NM_005476.7(GNE):c.159C>T (p.Asp53=) rs1830018253
NM_005476.7(GNE):c.1600C>T (p.Leu534=)
NM_005476.7(GNE):c.1602G>A (p.Leu534=) rs2133020974
NM_005476.7(GNE):c.1614T>A (p.Val538=) rs2133020873
NM_005476.7(GNE):c.162T>C (p.Tyr54=) rs756575824
NM_005476.7(GNE):c.1633+10G>A rs1332613836
NM_005476.7(GNE):c.1633+12A>G
NM_005476.7(GNE):c.1633+12del
NM_005476.7(GNE):c.1633+14G>A rs748208582
NM_005476.7(GNE):c.1633+15G>T
NM_005476.7(GNE):c.1633+7G>C rs773608353
NM_005476.7(GNE):c.1633+8G>C rs1028353184
NM_005476.7(GNE):c.1634-10C>T
NM_005476.7(GNE):c.1634-11C>T
NM_005476.7(GNE):c.1634-14A>G
NM_005476.7(GNE):c.1634-16C>T
NM_005476.7(GNE):c.1634-20A>T
NM_005476.7(GNE):c.1634-4G>C
NM_005476.7(GNE):c.1634-6C>A
NM_005476.7(GNE):c.1634-7G>C rs139442869
NM_005476.7(GNE):c.1638C>A (p.Ile546=) rs147768211
NM_005476.7(GNE):c.164+16T>C
NM_005476.7(GNE):c.164+19C>T
NM_005476.7(GNE):c.164+7T>C
NM_005476.7(GNE):c.164+8G>A rs2133125796
NM_005476.7(GNE):c.165-12C>G
NM_005476.7(GNE):c.165-12C>T
NM_005476.7(GNE):c.165-5T>C
NM_005476.7(GNE):c.165-6C>G rs2133114327
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
NM_005476.7(GNE):c.1671C>T (p.Ile557=) rs1587277726
NM_005476.7(GNE):c.1689T>C (p.Cys563=) rs768667610
NM_005476.7(GNE):c.1692T>G (p.Ala564=) rs1393386221
NM_005476.7(GNE):c.171A>G (p.Thr57=)
NM_005476.7(GNE):c.1749C>T (p.Ser583=)
NM_005476.7(GNE):c.1752T>C (p.His584=) rs1368954364
NM_005476.7(GNE):c.1755G>C (p.Gly585=)
NM_005476.7(GNE):c.175C>A (p.Arg59=)
NM_005476.7(GNE):c.1767A>T (p.Ala589=)
NM_005476.7(GNE):c.1788G>A (p.Leu596=)
NM_005476.7(GNE):c.1791G>A (p.Gln597=) rs1828506261
NM_005476.7(GNE):c.1794G>A (p.Arg598=)
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.1816+15C>G
NM_005476.7(GNE):c.1816+18G>A
NM_005476.7(GNE):c.1816+7G>A
NM_005476.7(GNE):c.1816+8T>G
NM_005476.7(GNE):c.1816+9C>A
NM_005476.7(GNE):c.1817-10C>T rs2132997852
NM_005476.7(GNE):c.1817-11_1817-8del rs769454562
NM_005476.7(GNE):c.1817-12C>G
NM_005476.7(GNE):c.1817-12C>T
NM_005476.7(GNE):c.1817-14C>T
NM_005476.7(GNE):c.1817-18C>A
NM_005476.7(GNE):c.1817-4T>G
NM_005476.7(GNE):c.1821C>T (p.Asp607=)
NM_005476.7(GNE):c.1828T>C (p.Leu610=) rs2132997736
NM_005476.7(GNE):c.1833G>A (p.Val611=) rs2132997684
NM_005476.7(GNE):c.1839G>A (p.Gly613=) rs2132997665
NM_005476.7(GNE):c.1857T>C (p.Asp619=) rs1587273465
NM_005476.7(GNE):c.1863T>C (p.Ala621=)
NM_005476.7(GNE):c.1872G>T (p.Ala624=)
NM_005476.7(GNE):c.1878T>C (p.His626=)
NM_005476.7(GNE):c.1881C>T (p.Leu627=)
NM_005476.7(GNE):c.192T>C (p.Asp64=) rs2133114091
NM_005476.7(GNE):c.1933+11G>C
NM_005476.7(GNE):c.1933+12G>A
NM_005476.7(GNE):c.1933+13C>T
NM_005476.7(GNE):c.1933+19G>A
NM_005476.7(GNE):c.1933+7A>C rs368100600
NM_005476.7(GNE):c.1933+7A>G rs368100600
NM_005476.7(GNE):c.1933+8_1933+17dup
NM_005476.7(GNE):c.1934-10C>T
NM_005476.7(GNE):c.1934-11T>C
NM_005476.7(GNE):c.1934-11T>G
NM_005476.7(GNE):c.1934-12G>T
NM_005476.7(GNE):c.1934-17T>C
NM_005476.7(GNE):c.1934-4A>G rs2132994193
NM_005476.7(GNE):c.1934-6C>T
NM_005476.7(GNE):c.1934-7C>T rs1387525049
NM_005476.7(GNE):c.1934-8C>T rs2132994218
NM_005476.7(GNE):c.1945T>C (p.Leu649=) rs1045540608
NM_005476.7(GNE):c.1956G>T (p.Gly652=)
NM_005476.7(GNE):c.1965C>T (p.Asn655=)
NM_005476.7(GNE):c.1968C>A (p.Ile656=)
NM_005476.7(GNE):c.1971C>A (p.Leu657=) rs2132993854
NM_005476.7(GNE):c.1989C>A (p.Ser663=) rs2132993686
NM_005476.7(GNE):c.1989C>T (p.Ser663=) rs2132993686
NM_005476.7(GNE):c.2007A>T (p.Gly669=)
NM_005476.7(GNE):c.2025T>C (p.Tyr675=) rs1479027996
NM_005476.7(GNE):c.204T>C (p.Ile68=)
NM_005476.7(GNE):c.2055G>A (p.Gln685=)
NM_005476.7(GNE):c.2061C>T (p.Ala687=)
NM_005476.7(GNE):c.2073G>A (p.Val691=) rs760445653
NM_005476.7(GNE):c.2085T>C (p.Asp695=) rs2132992452
NM_005476.7(GNE):c.2097G>C (p.Ser699=) rs200490682
NM_005476.7(GNE):c.2118G>A (p.Leu706=) rs1554657933
NM_005476.7(GNE):c.2118G>T (p.Leu706=)
NM_005476.7(GNE):c.2127T>C (p.Ala709=) rs1282905700
NM_005476.7(GNE):c.213G>A (p.Arg71=)
NM_005476.7(GNE):c.2142G>A (p.Leu714=)
NM_005476.7(GNE):c.2142G>T (p.Leu714=)
NM_005476.7(GNE):c.2160G>A (p.Arg720=)
NM_005476.7(GNE):c.243G>A (p.Glu81=)
NM_005476.7(GNE):c.246A>G (p.Ala82=) rs2133113710
NM_005476.7(GNE):c.255G>A (p.Val85=) rs2133113626
NM_005476.7(GNE):c.267C>G (p.Gly89=)
NM_005476.7(GNE):c.267C>T (p.Gly89=)
NM_005476.7(GNE):c.276A>C (p.Leu92=)
NM_005476.7(GNE):c.297T>G (p.Leu99=) rs544304534
NM_005476.7(GNE):c.303C>G (p.Arg101=)
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.330T>C (p.His110=) rs2133113028
NM_005476.7(GNE):c.348C>T (p.Ala116=)
NM_005476.7(GNE):c.363A>G (p.Thr121=)
NM_005476.7(GNE):c.366T>C (p.Ser122=) rs1421322802
NM_005476.7(GNE):c.417T>C (p.Ser139=)
NM_005476.7(GNE):c.420G>A (p.Gly140=) rs2133112706
NM_005476.7(GNE):c.432C>T (p.Asp144=) rs2133112638
NM_005476.7(GNE):c.441A>G (p.Arg147=)
NM_005476.7(GNE):c.444T>C (p.His148=)
NM_005476.7(GNE):c.474G>A (p.Val158=)
NM_005476.7(GNE):c.474G>C (p.Val158=) rs753803897
NM_005476.7(GNE):c.480C>T (p.Cys160=) rs1360990295
NM_005476.7(GNE):c.489T>C (p.Ser163=)
NM_005476.7(GNE):c.495G>A (p.Glu165=) rs2133112122
NM_005476.7(GNE):c.538T>C (p.Leu180=) rs2133111925
NM_005476.7(GNE):c.549C>T (p.Cys183=)
NM_005476.7(GNE):c.54C>T (p.Asn18=) rs1406781067
NM_005476.7(GNE):c.588C>T (p.Asp196=)
NM_005476.7(GNE):c.591C>T (p.Tyr197=) rs2133111680
NM_005476.7(GNE):c.597C>T (p.Ser199=)
NM_005476.7(GNE):c.616+15C>A rs1002961152
NM_005476.7(GNE):c.617-13T>C rs1266835565
NM_005476.7(GNE):c.63T>C (p.Asp21=)
NM_005476.7(GNE):c.642C>T (p.Tyr214=)
NM_005476.7(GNE):c.648T>G (p.Val216=) rs375728173
NM_005476.7(GNE):c.654A>G (p.Leu218=)
NM_005476.7(GNE):c.660C>T (p.His220=) rs2133078408
NM_005476.7(GNE):c.681G>A (p.Lys227=) rs201894560
NM_005476.7(GNE):c.709T>C (p.Leu237=) rs2133078170
NM_005476.7(GNE):c.723C>T (p.Ile241=)
NM_005476.7(GNE):c.750G>A (p.Leu250=)
NM_005476.7(GNE):c.753T>C (p.Phe251=) rs370479900
NM_005476.7(GNE):c.759T>C (p.Asn253=)
NM_005476.7(GNE):c.769+10C>T
NM_005476.7(GNE):c.769+19G>A
NM_005476.7(GNE):c.769+7G>A rs2133077826
NM_005476.7(GNE):c.770-20G>A
NM_005476.7(GNE):c.770-20G>T
NM_005476.7(GNE):c.770-8_770-3del
NM_005476.7(GNE):c.780G>A (p.Glu260=)
NM_005476.7(GNE):c.78C>G (p.Ala26=)
NM_005476.7(GNE):c.798G>A (p.Arg266=) rs2133068760
NM_005476.7(GNE):c.807C>T (p.Gly269=)
NM_005476.7(GNE):c.81G>A (p.Pro27=) rs768397785
NM_005476.7(GNE):c.831T>C (p.Arg277=) rs1367695782
NM_005476.7(GNE):c.840A>G (p.Lys280=)
NM_005476.7(GNE):c.879T>C (p.His293=)
NM_005476.7(GNE):c.894T>C (p.Ile298=) rs1277539567
NM_005476.7(GNE):c.942T>C (p.Pro314=) rs2133068079
NM_005476.7(GNE):c.951C>T (p.Asn317=) rs1456510873
NM_005476.7(GNE):c.982+13G>C
NM_005476.7(GNE):c.982+17A>G
NM_005476.7(GNE):c.982+19A>C
NM_005476.7(GNE):c.982+9C>T rs1829282969
NM_005476.7(GNE):c.983-16C>T
NM_005476.7(GNE):c.983-7T>C
NM_005476.7(GNE):c.983-8T>G
NM_005476.7(GNE):c.984G>A (p.Gly328=) rs2133049807
NM_005476.7(GNE):c.987G>A (p.Glu329=) rs2133049764
NM_005476.7(GNE):c.9G>A (p.Lys3=) rs2133126488

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