List of variants in gene GNE reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	rs199877522	0.00021
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.1844C>G (p.Ser615Ter)	rs757523840	0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	0.00003
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)	rs747199032	0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	rs28937594	0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)	rs773729410	0.00001
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)	rs111302956
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627

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