ClinVar Miner

List of variants in gene NDUFAF1 reported by GeneDx

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.41402545C>T rs3743038 0.35322
NC_000015.10:g.41387294G>A rs28703570 0.22764
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.-82+143C>T rs78069851 0.05154
NM_016013.4(NDUFAF1):c.574-301A>T rs74870417 0.04183
NM_016013.4(NDUFAF1):c.-379C>T rs146883891 0.03244
NM_016013.4(NDUFAF1):c.-386A>T rs111326645 0.02877
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_016013.4(NDUFAF1):c.-81-176G>A rs56301417 0.01742
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01714
NM_016013.4(NDUFAF1):c.-82+33_-82+36del rs544030008 0.00578
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00397
NM_016013.4(NDUFAF1):c.759+207T>C rs367698367 0.00323
NM_016013.4(NDUFAF1):c.-81-325T>C rs368442067 0.00263
NM_016013.4(NDUFAF1):c.925C>G (p.His309Asp) rs199599633 0.00180
NM_016013.4(NDUFAF1):c.760-19A>T rs139383475 0.00120
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00102
NM_016013.4(NDUFAF1):c.-20C>G rs377321530 0.00079
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799 0.00072
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315 0.00044
NM_016013.4(NDUFAF1):c.692A>G (p.Gln231Arg) rs149257811 0.00041
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131 0.00038
NM_016013.4(NDUFAF1):c.512C>T (p.Ala171Val) rs140515254 0.00033
NM_016013.4(NDUFAF1):c.638G>A (p.Arg213His) rs144437724 0.00018
NM_016013.4(NDUFAF1):c.259A>G (p.Arg87Gly) rs149991858 0.00017
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) rs146540015 0.00015
NM_016013.4(NDUFAF1):c.-76A>G rs778111432 0.00013
NM_016013.4(NDUFAF1):c.958G>A (p.Glu320Lys) rs200394888 0.00010
NM_016013.4(NDUFAF1):c.650G>A (p.Arg217Gln) rs780401493 0.00005
NM_016013.4(NDUFAF1):c.91C>T (p.Arg31Cys) rs771572097 0.00005
NM_016013.4(NDUFAF1):c.2T>C (p.Met1Thr) rs863224089 0.00003
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045 0.00003
NM_016013.4(NDUFAF1):c.731G>A (p.Arg244His) rs780883829 0.00002
NM_016013.4(NDUFAF1):c.-75T>C rs1057524062 0.00001
NM_016013.4(NDUFAF1):c.143A>G (p.Lys48Arg) rs780200320 0.00001
NM_016013.4(NDUFAF1):c.532del (p.Thr178fs) rs1064793767 0.00001
NM_016013.4(NDUFAF1):c.712A>G (p.Ser238Gly) rs770939199 0.00001
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620 0.00001
NC_000015.10:g.41387325_41387326del rs751327964
NC_000015.10:g.41387326del rs751327964
NC_000015.10:g.41387326dup rs751327964
NM_016013.4(NDUFAF1):c.-81-272C>G rs577928111
NM_016013.4(NDUFAF1):c.-81-8T>C rs1555382949
NM_016013.4(NDUFAF1):c.-82+137del rs200152538
NM_016013.4(NDUFAF1):c.147CTC[1] (p.Ser51del) rs754706556
NM_016013.4(NDUFAF1):c.309T>G (p.Asp103Glu) rs200211064
NM_016013.4(NDUFAF1):c.35A>G (p.Tyr12Cys) rs751703770
NM_016013.4(NDUFAF1):c.536G>C (p.Arg179Pro)
NM_016013.4(NDUFAF1):c.543G>A (p.Gly181=) rs762981931
NM_016013.4(NDUFAF1):c.61A>G (p.Thr21Ala) rs148982578
NM_016013.4(NDUFAF1):c.70T>A (p.Leu24Met) rs138995454
NM_016013.4(NDUFAF1):c.759+163G>A rs113428052
NM_016013.4(NDUFAF1):c.785C>G (p.Ser262Cys)
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853

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