ClinVar Miner

List of variants in gene FBXL4 reported as likely pathogenic for Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe) rs1554218821
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863
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.1442T>C (p.Leu481Pro) rs772037717
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
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.1586C>A (p.Ala529Glu) rs1443104983
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile) rs1391578014
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>C (p.Asp591Ala) rs747618415
NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly) rs747618415
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
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.419T>C (p.Val140Ala) rs1057519447
NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg) rs1345325140
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.858+5G>C rs1257765682
NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter) rs775768793

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.