ClinVar Miner

List of variants in gene GNE reported as likely pathogenic by Baylor Genetics

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr) rs121908626 0.00003
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 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.2003C>T (p.Ser668Phe) rs1258671706 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter) rs983424324
NM_005476.7(GNE):c.1026_1027del (p.Lys342fs)
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter) rs1829027066
NM_005476.7(GNE):c.1158del (p.Lys386fs) rs1057516275
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.165-1del
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.617-1G>A rs1256419231
NM_005476.7(GNE):c.617-2A>G rs1554661582
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.669_675del (p.Thr224fs)
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005476.7(GNE):c.961C>T (p.Arg321Cys) rs1554661030

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