ClinVar Miner

List of variants in gene combination LOC126861242, NDUFV1 reported as likely pathogenic for Mitochondrial complex I deficiency, nuclear type 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	rs121913659	0.00004
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)	rs150966634	0.00001

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