ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627

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