List of variants in gene NDUFAF5 reported as uncertain significance for Mitochondrial complex I deficiency

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys)	rs147117631	0.00111
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=)	rs146052819	0.00106
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=)	rs150955045	0.00104
NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His)	rs376456360	0.00018
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr)	rs200199681	0.00014
NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=)	rs745871040	0.00005
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)	rs761389904	0.00002

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