ClinVar Miner

List of variants in gene GNE studied for not specified

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_005476.7(GNE):c.1281+44G>A rs16933102 0.03050
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
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.843C>T (p.His281=) rs138694766 0.00023
NM_001128227.3(GNE):c.51+17T>G rs144416128 0.00014
NM_005476.7(GNE):c.1934-36T>A rs375573973 0.00014
NM_005476.7(GNE):c.1070+36A>C rs377589477 0.00013
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388 0.00007
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.765C>T (p.Asp255=) rs775805166 0.00004
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NC_000009.11:g.(36249395_36276890)_(36277054_?)dup
NM_005476.7(GNE):c.1042C>T (p.His348Tyr)
NM_005476.7(GNE):c.1233C>T (p.Ala411=) rs1057523203
NM_005476.7(GNE):c.1245C>A (p.Gly415=) rs140784655
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1411+5G>A
NM_005476.7(GNE):c.1877A>G (p.His626Arg)
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
NM_005476.7(GNE):c.317T>C (p.Ile106Thr) rs773920008
NM_005476.7(GNE):c.353C>T (p.Ala118Val)
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.794T>C (p.Met265Thr) rs2133068813
NM_005476.7(GNE):c.800A>G (p.Lys267Arg) rs2133068749

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