List of variants in gene NDUFV1 reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 4

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)	rs768050261	0.00002
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)	rs750831299	0.00002
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)	rs121913661	0.00001
NM_007103.4(NDUFV1):c.336T>G (p.Tyr112Ter)	rs1591109810
NM_007103.4(NDUFV1):c.475C>T (p.Arg159Ter)
NM_007103.4(NDUFV1):c.797dup (p.Arg267fs)	rs2134085151

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