ClinVar Miner

List of variants in gene NDUFS4 reported as uncertain significance for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073 0.00215
NM_002495.4(NDUFS4):c.469T>A (p.Ser157Thr) rs149482195 0.00052
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721 0.00051
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) rs368876333 0.00003
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) rs1022912416 0.00002
NM_002495.4(NDUFS4):c.350+6T>C rs3733833 0.00002
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A rs1740746273
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) rs768080528

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