ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter) rs1182326570
NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter) rs1187832552
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294
NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=) rs1554218789
NM_001278716.2(FBXL4):c.1389+3_1389+6del rs1554216735
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.1635_1636TG[3] (p.Cys547_Asp548delinsTer) rs765882664
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter) rs1554215964
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001278716.2(FBXL4):c.273_277del (p.Phe91fs) rs766892502
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter) rs1554222122
NM_001278716.2(FBXL4):c.326del (p.Ser109fs) rs761215749
NM_001278716.2(FBXL4):c.513-1G>A rs1554221258
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) rs964532159
NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs) rs886041625
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128
NM_001278716.2(FBXL4):c.858+1G>T rs1394080480
NM_001278716.2(FBXL4):c.859-1G>T rs368965675

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