List of variants in gene NDUFAF1 reported as uncertain significance for Mitochondrial complex I deficiency, nuclear type 1

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_016013.4(NDUFAF1):c.-6T>G	rs180730324	0.00404
NM_016013.4(NDUFAF1):c.-205G>C	rs190265352	0.00175
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)	rs150539399	0.00106
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser)	rs200472799	0.00072
NM_016013.4(NDUFAF1):c.-165C>T	rs561102841	0.00053
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=)	rs145122315	0.00044
NM_016013.4(NDUFAF1):c.-352C>T	rs532681188	0.00041
NM_016013.4(NDUFAF1):c.-137C>T	rs369431865	0.00038
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala)	rs151286131	0.00038
NM_016013.4(NDUFAF1):c.-293C>T	rs760649120	0.00031
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu)	rs146540015	0.00015
NM_016013.4(NDUFAF1):c.-140C>T	rs886051144	0.00002
NM_016013.4(NDUFAF1):c.-34C>G	rs751720445	0.00002
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val)	rs372385045	0.00002
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu)	rs1406147170	0.00001
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys)	rs759057658	0.00001
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=)	rs764849578	0.00001
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser)	rs759432475	0.00001
NM_016013.4(NDUFAF1):c.-180C>T	rs886051145
NM_016013.4(NDUFAF1):c.-192T>C	rs948869374
NM_016013.4(NDUFAF1):c.-242G>C	rs762867624
NM_016013.4(NDUFAF1):c.-312T>G	rs886051146
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln)	rs576430165
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly)	rs886051143
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser)	rs148982578
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn)	rs866015009
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val)	rs769371844

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