ClinVar Miner

List of variants in gene GNE reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
Download table as spreadsheet
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.165-18A>G rs374105190 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_001128227.3(GNE):c.51+17T>G rs144416128 0.00014
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
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.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.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.1234G>A (p.Val412Ile) rs369714039 0.00004
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys) rs551854437 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 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.765C>T (p.Asp255=) rs775805166 0.00004
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.737G>A (p.Arg246Gln) rs121908629 0.00003
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.604C>T (p.Arg202Cys) rs756309840 0.00002
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.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.485G>A (p.Arg162His) rs747640708 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
NC_000009.12:g.36277073CT[2] rs534444344
NM_005476.7(GNE):c.*277ATA[1] rs140089561
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.1071-175C>A rs144485929
NM_005476.7(GNE):c.1233C>T (p.Ala411=) rs1057523203
NM_005476.7(GNE):c.1281+27T>C rs115052162
NM_005476.7(GNE):c.1281+50dup rs150174400
NM_005476.7(GNE):c.1282-267dup rs377239651
NM_005476.7(GNE):c.1282-281C>T rs140478304
NM_005476.7(GNE):c.1500_1529delinsA (p.Arg501fs) rs1554658924
NM_005476.7(GNE):c.1538G>T (p.Trp513Leu) rs2133021459
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.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter) rs111302956
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1817-213del rs556551893
NM_005476.7(GNE):c.1978A>G (p.Met660Val) rs1554658048
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
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.328C>G (p.His110Asp) rs2133113061
NM_005476.7(GNE):c.476G>C (p.Cys159Ser)
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.711G>C (p.Leu237Phe) rs724159957
NM_005476.7(GNE):c.724T>A (p.Ser242Thr)
NM_005476.7(GNE):c.982+253del rs34150061

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.