List of variants in gene NDUFAF1 studied 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
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His)	rs1899	0.22292
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys)	rs35227875	0.02686
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met)	rs34979001	0.01822
NM_016013.4(NDUFAF1):c.512C>T (p.Ala171Val)	rs140515254	0.00033
NM_016013.4(NDUFAF1):c.457A>G (p.Lys153Glu)	rs571701028	0.00005
NM_016013.4(NDUFAF1):c.199G>A (p.Val67Ile)	rs201452351	0.00004
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.624_625del (p.Tyr209fs)
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg)	rs376344575
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu)	rs3204853

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