ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 4 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) rs121913661 0.00001

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