ClinVar Miner

List of variants in gene GNE reported as uncertain significance by Counsyl

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Total variants: 34
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HGVS dbSNP
NM_001128227.2(GNE):c.862+4dupA rs756817842
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816
NM_001128227.3(GNE):c.3G>A (p.Met1Ile) rs1554668704
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.82_83dup (p.Asn28fs) rs1554664095
NM_001190388.1(GNE):c.2T>G (p.Met1Arg) rs757093701
NM_001190388.1(GNE):c.41_42del (p.Lys14fs) rs751222162
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn) rs1554660095
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu) rs1554660090
NM_005476.7(GNE):c.1099G>A (p.Val367Ile) rs1554659769
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg) rs1313840587
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys) rs1447770049
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu) rs1414079876
NM_005476.7(GNE):c.1567C>A (p.Leu523Met) rs1554658905
NM_005476.7(GNE):c.1567C>G (p.Leu523Val) rs1554658905
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220
NM_005476.7(GNE):c.2088_2090GGT[1] (p.Val698del) rs1554657956
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2T>C (p.Met1Thr) rs1554664086
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625
NM_005476.7(GNE):c.620_622ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630
NM_005476.7(GNE):c.6_8GAA[1] (p.Lys3del) rs1554664082
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005476.7(GNE):c.992T>G (p.Val331Gly) rs1554660119

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