ClinVar Miner

List of variants in gene combination LOC129936731, NDUFAF3 reported as uncertain significance 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_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe)	rs373060774	0.00004
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu)	rs2093169670

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