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

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)	rs121913660	0.00006
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	rs201727685	0.00005
NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu)	rs779150755	0.00004
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)	rs755312472	0.00003
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)	rs750831299	0.00002
NM_007103.4(NDUFV1):c.1080+1G>T
NM_007103.4(NDUFV1):c.118C>T (p.Arg40Trp)
NM_007103.4(NDUFV1):c.151_152del (p.Trp51fs)	rs2134082911
NM_007103.4(NDUFV1):c.156-2A>G
NM_007103.4(NDUFV1):c.424del (p.Cys142fs)
NM_007103.4(NDUFV1):c.437dup (p.Arg147fs)
NM_007103.4(NDUFV1):c.450dup (p.Ala151fs)
NM_007103.4(NDUFV1):c.520C>T (p.Arg174Ter)
NM_007103.4(NDUFV1):c.611A>G (p.Tyr204Cys)	rs1424452972
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
NM_007103.4(NDUFV1):c.828del (p.Phe276fs)

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