ClinVar Miner

List of variants in gene FBXL4 reported as likely pathogenic by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile) rs1391578014 0.00006
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg) rs1345325140 0.00003
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro) rs772037717 0.00001
NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu) rs1443104983 0.00001
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001278716.2(FBXL4):c.858+5G>C rs1257765682 0.00001
NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe) rs1554218821
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu) rs754142863
NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter) rs750973870
NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr) rs1227524799
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly) rs1411907961
NM_001278716.2(FBXL4):c.1546_1563del (p.Pro516_Ser521del) rs878853112
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg) rs1554215804
NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly) rs747618415
NM_001278716.2(FBXL4):c.1836del (p.Val613fs) rs751656896
NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu) rs1554215766
NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter) rs761974928
NM_001278716.2(FBXL4):c.415_416insTT (p.Ala139fs) rs767543583
NM_001278716.2(FBXL4):c.417_418insA (p.Val140fs) rs761902417
NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr) rs1350566881
NM_001278716.2(FBXL4):c.661G>C (p.Asp221His) rs1554221191
NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val) rs1554221189
NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter) rs775768793

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