ClinVar Miner

List of variants studied for Mitochondrial complex I deficiency by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426 0.00016
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001

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