ClinVar Miner

List of variants in gene GNE reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.-42-217A>G rs143457494 0.02236
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_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.1872G>A (p.Ala624=) rs145361930 0.00126
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_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.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.1281+6A>T rs201025841 0.00006
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.765C>T (p.Asp255=) rs775805166 0.00004
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NC_000009.12:g.36277073CT[2] rs534444344
NM_005476.7(GNE):c.*277ATA[1] rs140089561
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.165-180_165-179del rs66781293
NM_005476.7(GNE):c.165-181_165-179del rs66781293
NM_005476.7(GNE):c.1817-213del rs556551893

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