ClinVar Miner

List of variants in gene GNE studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.1933+162G>C rs615108 0.80967
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.165-115A>G rs7861442 0.50498
NM_005476.7(GNE):c.1282-302G>A rs28576111 0.48653
NM_005476.7(GNE):c.1934-201C>T rs616009 0.42970
NM_005476.7(GNE):c.1282-155C>T rs10758350 0.30335
NM_001128227.3(GNE):c.52-9153G>A rs35078360 0.17375
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.982+247T>G rs202137023 0.11498
NM_005476.7(GNE):c.1633+125G>C rs10972795 0.09219
NM_005476.7(GNE):c.1634-117A>G rs2296818 0.09084
NM_005476.7(GNE):c.616+269T>C rs7871216 0.08144
NM_005476.7(GNE):c.1633+237C>T rs11793464 0.08058
NM_005476.7(GNE):c.-42-248C>T rs185612372 0.06896
NM_001128227.2(GNE):c.-230G>A rs72624019 0.06001
NM_005476.7(GNE):c.983-273G>A rs77468060 0.04525
NM_005476.7(GNE):c.1281+44G>A rs16933102 0.03050
NM_005476.7(GNE):c.617-298T>C rs16933114 0.02964
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_005476.7(GNE):c.-42-217A>G rs143457494 0.02236
NM_005476.7(GNE):c.1633+118T>C rs2772222 0.01972
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NC_000009.12:g.36277317G>A rs115179729 0.01507
NM_005476.7(GNE):c.165-78G>A rs79668204 0.01481
NM_005476.7(GNE):c.*74G>A rs16933089 0.01338
NM_005476.7(GNE):c.1633+341G>T rs867242865 0.01209
NM_005476.7(GNE):c.617-260A>C rs16933112 0.01086
NM_005476.7(GNE):c.164+214A>G rs116002444 0.00998
NM_001128227.2(GNE):c.-193C>T rs117403207 0.00948
NM_005476.7(GNE):c.1933+168A>G rs192421511 0.00940
NM_005476.7(GNE):c.770-115A>G rs143985783 0.00900
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_005476.7(GNE):c.165-195A>C rs952800103 0.00715
NM_005476.7(GNE):c.-42-171A>G rs182888437 0.00600
NM_005476.7(GNE):c.-42-141A>G rs190263712 0.00597
NM_005476.7(GNE):c.1933+98del rs371206506 0.00560
NM_001128227.3(GNE):c.51+294T>C rs143985614 0.00552
NM_005476.7(GNE):c.165-211T>A rs184718221 0.00455
NM_001128227.3(GNE):c.51+63A>G rs185045598 0.00436
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.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.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_005476.7(GNE):c.1933+3G>A rs370730412 0.00021
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.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_001128227.3(GNE):c.-3G>A rs368762704 0.00010
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.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.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.23G>A (p.Arg8Gln) rs763057654 0.00005
NM_001128227.3(GNE):c.-4C>T rs769506627 0.00004
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_005476.7(GNE):c.1020A>G (p.Gln340=) rs747807631 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.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.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005476.7(GNE):c.725C>T (p.Ser242Leu) rs771167726 0.00004
NM_005476.7(GNE):c.726A>G (p.Ser242=) rs763368889 0.00004
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg) rs762425552 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.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.1907C>T (p.Ala636Val) rs756488394 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_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.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.1674C>T (p.His558=) rs144931111 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.207C>T (p.Asn69=) rs781586600 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.604C>T (p.Arg202Cys) rs756309840 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_001128227.3(GNE):c.15T>C (p.Gly5=) rs192260997 0.00001
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn) rs767777879 0.00001
NM_001190388.1(GNE):c.34C>A (p.Pro12Thr) rs1479837278 0.00001
NM_005476.7(GNE):c.103G>A (p.Glu35Lys) rs758157078 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.1186A>C (p.Ile396Leu) rs886042509 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.1259G>A (p.Arg420Gln) rs780092539 0.00001
NM_005476.7(GNE):c.1276A>C (p.Met426Leu) rs750404513 0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798 0.00001
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser) rs966918577 0.00001
NM_005476.7(GNE):c.1638C>T (p.Ile546=) rs147768211 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.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1742G>T (p.Cys581Phe) rs756926638 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.1812T>C (p.His604=) rs541458680 0.00001
NM_005476.7(GNE):c.1933+8T>C rs768321445 0.00001
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe) rs1258671706 0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His) rs1191857860 0.00001
NM_005476.7(GNE):c.2070C>T (p.Ser690=) rs776582567 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.2113G>A (p.Ala705Thr) rs201216576 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 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.722T>G (p.Ile241Ser) rs759945787 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005476.7(GNE):c.766G>A (p.Ala256Thr) rs375740268 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
GRCh37/hg19 9p13.3(chr9:36276891-36276941)x3
NC_000009.12:g.36277073CT[2] rs534444344
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys) rs1403279875
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.7del (p.Thr3fs) rs1563966097
NM_005476.7(GNE):c.*277ATA[1] rs140089561
NM_005476.7(GNE):c.-42-1G>T
NM_005476.7(GNE):c.1020A>C (p.Gln340His) rs747807631
NM_005476.7(GNE):c.1023C>A (p.Asp341Glu)
NM_005476.7(GNE):c.1063T>C (p.Tyr355His) rs886044389
NM_005476.7(GNE):c.1064A>C (p.Tyr355Ser)
NM_005476.7(GNE):c.1070+208dup rs71336431
NM_005476.7(GNE):c.1070+226_1070+227del rs71336431
NM_005476.7(GNE):c.1070+227del rs71336431
NM_005476.7(GNE):c.1070+2dup rs886043636
NM_005476.7(GNE):c.1071-175C>A rs144485929
NM_005476.7(GNE):c.1071-4G>T rs567349676
NM_005476.7(GNE):c.1085G>A (p.Gly362Glu) rs755188930
NM_005476.7(GNE):c.1087G>A (p.Asp363Asn) rs766459139
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro) rs1554659760
NM_005476.7(GNE):c.1132G>C (p.Asp378His) rs199877522
NM_005476.7(GNE):c.1134T>A (p.Asp378Glu)
NM_005476.7(GNE):c.1153_1158del (p.Lys385_Lys386del) rs1554659740
NM_005476.7(GNE):c.1158A>T (p.Lys386Asn) rs1828920194
NM_005476.7(GNE):c.118G>A (p.Glu40Lys)
NM_005476.7(GNE):c.1204C>A (p.His402Asn)
NM_005476.7(GNE):c.1220dup (p.Ser408fs) rs2133041569
NM_005476.7(GNE):c.1259G>C (p.Arg420Pro)
NM_005476.7(GNE):c.125A>C (p.Asp42Ala) rs1587347675
NM_005476.7(GNE):c.1264G>A (p.Ala422Thr) rs1828910974
NM_005476.7(GNE):c.1281+27T>C rs115052162
NM_005476.7(GNE):c.1281+50dup rs150174400
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1282-267dup rs377239651
NM_005476.7(GNE):c.1282-281C>T rs140478304
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.1352A>C (p.Gln451Pro)
NM_005476.7(GNE):c.1379C>T (p.Ala460Val) rs121908631
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp) rs1439999698
NM_005476.7(GNE):c.1500_1529delinsA (p.Arg501fs) rs1554658924
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.1538G>T (p.Trp513Leu) rs2133021459
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1541T>C (p.Val514Ala)
NM_005476.7(GNE):c.1546A>C (p.Asn516His) rs1563930141
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
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.160T>A (p.Tyr54Asn)
NM_005476.7(GNE):c.1613T>C (p.Val538Ala)
NM_005476.7(GNE):c.1616C>T (p.Thr539Ile)
NM_005476.7(GNE):c.1633+66G>A
NM_005476.7(GNE):c.1633_1633+3del rs1554658877
NM_005476.7(GNE):c.1634G>A (p.Gly545Glu)
NM_005476.7(GNE):c.164+1G>A rs1554664043
NM_005476.7(GNE):c.165-179del rs66781293
NM_005476.7(GNE):c.165-180_165-179del rs66781293
NM_005476.7(GNE):c.165-181_165-179del rs66781293
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1703G>C (p.Gly568Ala) rs1419793175
NM_005476.7(GNE):c.1703G>T (p.Gly568Val)
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1729C>A (p.Pro577Thr) rs886044550
NM_005476.7(GNE):c.1730C>T (p.Pro577Leu) rs1828512489
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter) rs111302956
NM_005476.7(GNE):c.1772C>T (p.Ala591Val)
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+10C>T rs1554658425
NM_005476.7(GNE):c.1816+2T>C
NM_005476.7(GNE):c.1817-213del rs556551893
NM_005476.7(GNE):c.1821C>T (p.Asp607=)
NM_005476.7(GNE):c.182T>C (p.Ile61Thr)
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
NM_005476.7(GNE):c.1943C>T (p.Ala648Val)
NM_005476.7(GNE):c.1978A>G (p.Met660Val) rs1554658048
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser) rs765173992
NM_005476.7(GNE):c.2021A>G (p.His674Arg) rs1554658011
NM_005476.7(GNE):c.2043C>A (p.Asp681Glu) rs568010488
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
NM_005476.7(GNE):c.2063T>C (p.Leu688Ser)
NM_005476.7(GNE):c.2083G>T (p.Asp695Tyr) rs2132992493
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.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2120T>C (p.Leu707Pro) rs886044099
NM_005476.7(GNE):c.221_222del (p.Thr74fs) rs2133113896
NM_005476.7(GNE):c.233G>A (p.Gly78Glu) rs886043490
NM_005476.7(GNE):c.234AGA[1] (p.Glu79del)
NM_005476.7(GNE):c.274C>A (p.Leu92Ile)
NM_005476.7(GNE):c.297T>G (p.Leu99=) rs544304534
NM_005476.7(GNE):c.302G>C (p.Arg101Pro)
NM_005476.7(GNE):c.317T>C (p.Ile106Thr) rs773920008
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.328C>G (p.His110Asp) rs2133113061
NM_005476.7(GNE):c.329A>G (p.His110Arg) rs886043739
NM_005476.7(GNE):c.377T>A (p.Met126Lys)
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.404G>T (p.Gly135Val)
NM_005476.7(GNE):c.429T>C (p.Asp143=) rs1587339981
NM_005476.7(GNE):c.469C>T (p.His157Tyr)
NM_005476.7(GNE):c.470_471del (p.His157fs) rs1554663368
NM_005476.7(GNE):c.476G>C (p.Cys159Ser)
NM_005476.7(GNE):c.481A>G (p.Thr161Ala) rs1292723201
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.487A>G (p.Ser163Gly) rs752740158
NM_005476.7(GNE):c.490G>A (p.Ala164Thr)
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.501C>T (p.His167=) rs1554663342
NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)
NM_005476.7(GNE):c.568C>T (p.Leu190Phe) rs886042560
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.616+1del rs1554663295
NM_005476.7(GNE):c.616G>A (p.Gly206Ser) rs766266918
NM_005476.7(GNE):c.616_616+3del
NM_005476.7(GNE):c.617-2A>G rs1554661582
NM_005476.7(GNE):c.638A>T (p.Asp213Val) rs1554661565
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.688A>G (p.Ile230Val)
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.695T>C (p.Met232Thr) rs761468890
NM_005476.7(GNE):c.710T>C (p.Leu237Ser) rs886043407
NM_005476.7(GNE):c.711G>C (p.Leu237Phe) rs724159957
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer) rs2133078032
NM_005476.7(GNE):c.724T>A (p.Ser242Thr)
NM_005476.7(GNE):c.734A>C (p.Lys245Thr)
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.783G>T (p.Met261Ile) rs1554661095
NM_005476.7(GNE):c.787C>T (p.Arg263Ter) rs200643106
NM_005476.7(GNE):c.81G>A (p.Pro27=) rs768397785
NM_005476.7(GNE):c.829C>G (p.Arg277Gly) rs762106720
NM_005476.7(GNE):c.831_833delinsATCCCAA (p.Ala278fs)
NM_005476.7(GNE):c.853G>C (p.Asp285His)
NM_005476.7(GNE):c.890T>C (p.Met297Thr) rs778668749
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.961del (p.Arg321fs) rs1829284063
NM_005476.7(GNE):c.962G>A (p.Arg321His)
NM_005476.7(GNE):c.982+253del rs34150061
NM_005476.7(GNE):c.982+3del rs1587313110
NM_005476.7(GNE):c.982+8C>T rs1563938239

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