List of variants in gene ETFA 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	rs119458970	0.00008
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)	rs754202690	0.00004
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	rs199763682	0.00002
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	rs769976586	0.00001

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