List of variants in gene NDUFAF1 reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 11

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_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys)	rs387906958	0.00004
NM_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg)	rs387906957	0.00001
NM_016013.4(NDUFAF1):c.619A>C (p.Thr207Pro)	rs387906956
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg)	rs376344575

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