ClinVar Miner

List of variants in gene TUFM studied for Combined oxidative phosphorylation defect type 4

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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_003321.5(TUFM):c.817+13T>C rs4788099 0.34806
NM_003321.5(TUFM):c.922+29C>G rs61737565 0.34806
NM_003321.5(TUFM):c.*300T>G rs3088215 0.34801
NM_003321.5(TUFM):c.248-18G>A rs8061877 0.24423
NM_003321.5(TUFM):c.198C>T (p.Ile66=) rs11542257 0.02831
NM_003321.5(TUFM):c.*24C>T rs8754 0.02648
NM_003321.5(TUFM):c.*561A>T rs184878749 0.00435
NM_003321.5(TUFM):c.684+6C>T rs188421321 0.00419
NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser) rs146326033 0.00200
NM_003321.5(TUFM):c.520-13C>G rs115691896 0.00158
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116
NM_003321.5(TUFM):c.1120G>A (p.Val374Met) rs114590091 0.00071
NM_003321.5(TUFM):c.622G>A (p.Glu208Lys) rs143189885 0.00062
NM_003321.5(TUFM):c.*445G>A rs542944452 0.00051
NM_003321.5(TUFM):c.558T>C (p.Ala186=) rs141728293 0.00047
NM_003321.5(TUFM):c.759C>T (p.Pro253=) rs185379779 0.00029
NM_003321.5(TUFM):c.427G>A (p.Gly143Ser) rs34283928 0.00024
NM_003321.5(TUFM):c.*229G>A rs558681318 0.00016
NM_003321.5(TUFM):c.760G>A (p.Ala254Thr) rs138917503 0.00015
NM_003321.5(TUFM):c.*398G>A rs560701501 0.00011
NM_003321.5(TUFM):c.*60T>G rs545220973 0.00009
NM_003321.5(TUFM):c.619A>C (p.Thr207Pro) rs372069941 0.00009
NM_003321.5(TUFM):c.810C>T (p.Ser270=) rs528294620 0.00007
NM_003321.5(TUFM):c.*110A>G rs753564296 0.00006
NM_003321.5(TUFM):c.470A>G (p.Asn157Ser) rs201756974 0.00006
NM_003321.5(TUFM):c.684+8C>T rs117782882 0.00006
NM_003321.5(TUFM):c.*349G>A rs749982691 0.00003
NM_003321.5(TUFM):c.*517G>C rs886051875 0.00003
NM_003321.5(TUFM):c.1348A>G (p.Lys450Glu) rs199674838 0.00003
NM_003321.5(TUFM):c.922+8A>G rs760803572 0.00003
NM_003321.5(TUFM):c.975C>T (p.Leu325=) rs757569717 0.00002
NM_003321.5(TUFM):c.*270C>T rs867305584 0.00001
NM_003321.5(TUFM):c.*37G>A rs375508343 0.00001
NM_003321.5(TUFM):c.100C>G (p.Leu34Val) rs760020885 0.00001
NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln) rs121434452 0.00001
NM_003321.5(TUFM):c.166C>G (p.Arg56Gly) rs1283449085 0.00001
NM_003321.5(TUFM):c.568C>T (p.Gln190Ter) rs764968635 0.00001
NM_003321.5(TUFM):c.581T>C (p.Met194Thr) rs1961891464 0.00001
NM_003321.5(TUFM):c.595G>C (p.Glu199Gln) rs1961890988 0.00001
NM_003321.5(TUFM):c.800C>T (p.Ala267Val) rs777415739 0.00001
NM_003321.5(TUFM):c.894T>C (p.His298=) rs780273573 0.00001
NM_003321.5(TUFM):c.*149G>C rs886051876
NM_003321.5(TUFM):c.*370T>G rs567224368
NM_003321.5(TUFM):c.*433T>C rs527678767
NM_003321.5(TUFM):c.162del (p.Thr53_Tyr54insTer) rs1057518743
NM_003321.5(TUFM):c.248-13T>G rs775737562
NM_003321.5(TUFM):c.440T>A (p.Leu147His) rs1057518742
NM_003321.5(TUFM):c.502T>A (p.Leu168Ile)
NM_003321.5(TUFM):c.519+14G>C rs767512015
NM_003321.5(TUFM):c.519+15G>A rs758912548
NM_003321.5(TUFM):c.562G>A (p.Ala188Thr) rs1167098942
NM_003321.5(TUFM):c.825C>G (p.Gly275=) rs1596602330
NM_003321.5(TUFM):c.923-9C>A rs763468042
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro) rs924099073

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