ClinVar Miner

List of variants in gene GNE reported as pathogenic by Counsyl

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Total variants: 7
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HGVS dbSNP
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) rs747199032
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890

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