ClinVar Miner

List of variants studied for Mitochondrial complex I deficiency, nuclear type 1 by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_002495.4(NDUFS4):c.424+19dup rs140172554

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