List of variants in gene GNE reported as pathogenic by OMIM

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	rs62541771	0.00011
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.673G>A (p.Asp225Asn)	rs121908630	0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	0.00003
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)	rs121908632	0.00002
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)	rs121908625	0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	rs28937594	0.00001
NM_005476.7(GNE):c.1379C>T (p.Ala460Val)	rs121908631
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.511A>G (p.Met171Val)	rs121908634
NM_005476.7(GNE):c.788G>T (p.Arg263Leu)	rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp)	rs121908621
NM_005476.7(GNE):c.797G>A (p.Arg266Gln)	rs121908622
NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val)	rs121908633
NM_005476.7(GNE):c.909T>A (p.Cys303Ter)	rs121908628

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