ClinVar Miner

List of variants in gene NDUFAF4 studied for Mitochondrial complex 1 deficiency, nuclear type 15

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219 0.00194
NM_014165.4(NDUFAF4):c.241-18dup rs34213186

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