List of variants in gene combination LOC126861242, NDUFV1 reported as likely 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	rs536758576	0.00009
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)	rs1127511	0.00008
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)	rs150966634	0.00001
NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser)	rs1135402749
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)	rs1591111808
NM_007103.4(NDUFV1):c.1163G>A (p.Gly388Asp)
NM_007103.4(NDUFV1):c.1213_1234del (p.Arg405fs)

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