List of variants in gene NDUFAF2 reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 10

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)	rs137852863	0.00004
NM_174889.5(NDUFAF2):c.184del (p.Tyr62fs)	rs1561557254	0.00001
NM_174889.5(NDUFAF2):c.1A>T (p.Met1Leu)	rs1554076306	0.00001
NM_174889.5(NDUFAF2):c.103del (p.Ile35fs)	rs1554076324
NM_174889.5(NDUFAF2):c.9G>A (p.Trp3Ter)	rs1554076309

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