ClinVar Miner

List of variants in gene NDUFS4 studied for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 39
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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.*46G>A rs567 0.42121
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.355G>C (p.Asp119His) rs747359752 0.00001
NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs) rs766516611 0.00001
NM_002495.4(NDUFS4):c.99-1G>A rs376281345 0.00001
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A rs1740746273
NM_002495.4(NDUFS4):c.114del (p.Thr39fs)
NM_002495.4(NDUFS4):c.136dup (p.Gln46fs)
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
NM_002495.4(NDUFS4):c.235del (p.Ile79fs)
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002495.4(NDUFS4):c.295del (p.Met99fs)
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)
NM_002495.4(NDUFS4):c.342G>A (p.Trp114Ter)
NM_002495.4(NDUFS4):c.350+1G>A rs1260453815
NM_002495.4(NDUFS4):c.350+5G>A rs1751865973
NM_002495.4(NDUFS4):c.351-1G>C
NM_002495.4(NDUFS4):c.351-2A>C
NM_002495.4(NDUFS4):c.351-2A>G
NM_002495.4(NDUFS4):c.393dup (p.Glu132fs)
NM_002495.4(NDUFS4):c.415G>T (p.Glu139Ter)
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002495.4(NDUFS4):c.424+2T>A
NM_002495.4(NDUFS4):c.424G>T (p.Gly142Ter)
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs) rs1740730588
NM_002495.4(NDUFS4):c.479dup (p.Tyr160Ter)
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) rs768080528

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