ClinVar Miner

List of variants in gene NDUFAF1 studied for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109 0.08960
NM_016013.4(NDUFAF1):c.-379C>T rs146883891 0.03244
NM_016013.4(NDUFAF1):c.-386A>T rs111326645 0.02811
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01822
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_016013.4(NDUFAF1):c.-205G>C rs190265352 0.00175
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799 0.00072
NM_016013.4(NDUFAF1):c.-165C>T rs561102841 0.00053
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315 0.00044
NM_016013.4(NDUFAF1):c.-352C>T rs532681188 0.00041
NM_016013.4(NDUFAF1):c.-137C>T rs369431865 0.00038
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131 0.00038
NM_016013.4(NDUFAF1):c.-293C>T rs760649120 0.00031
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) rs146540015 0.00015
NM_016013.4(NDUFAF1):c.-140C>T rs886051144 0.00002
NM_016013.4(NDUFAF1):c.-34C>G rs751720445 0.00002
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045 0.00002
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu) rs1406147170 0.00001
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys) rs759057658 0.00001
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=) rs764849578 0.00001
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser) rs759432475 0.00001
NM_016013.4(NDUFAF1):c.-180C>T rs886051145
NM_016013.4(NDUFAF1):c.-192T>C rs948869374
NM_016013.4(NDUFAF1):c.-242G>C rs762867624
NM_016013.4(NDUFAF1):c.-312T>G rs886051146
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln) rs576430165
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val) rs769371844
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853

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