ClinVar Miner

List of variants in gene ERCC8, NDUFAF2 studied for Mitochondrial complex I deficiency

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_174889.4(NDUFAF2):c.-97A>G	rs158922	0.66969
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)	rs886060726	0.00001
NM_174889.4(NDUFAF2):c.-91C>T	rs4647036

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