ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 4 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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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.248C>T (p.Ser83Leu) rs779150755 0.00004

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