ClinVar Miner

List of variants in gene FBXL4 reported as pathogenic

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Total variants: 29
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HGVS dbSNP
NM_012160.3(FBXL4):c.618_621dupACTG rs886041625
NM_012160.4(FBXL4):c.1067delG (p.Gly356Alafs) rs1554219474
NM_012160.4(FBXL4):c.106A>T (p.Arg36Ter) rs1182326570
NM_012160.4(FBXL4):c.1210C>T (p.Gln404Ter) rs1187832552
NM_012160.4(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294
NM_012160.4(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863
NM_012160.4(FBXL4):c.1317G>A (p.Glu439=) rs1554218789
NM_012160.4(FBXL4):c.1389+3_1389+6del rs1554216735
NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_012160.4(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_012160.4(FBXL4):c.1641_1642del (p.Cys547Terfs) rs765882664
NM_012160.4(FBXL4):c.1648_1649del (p.Asp550Hisfs) rs1554215986
NM_012160.4(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_012160.4(FBXL4):c.1687C>T (p.Gln563Ter) rs1554215964
NM_012160.4(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_012160.4(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_012160.4(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_012160.4(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_012160.4(FBXL4):c.273_277del (p.Phe91Leufs) rs766892502
NM_012160.4(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130
NM_012160.4(FBXL4):c.316C>T (p.Gln106Ter) rs1554222122
NM_012160.4(FBXL4):c.326del (p.Ser109Metfs) rs761215749
NM_012160.4(FBXL4):c.419T>C (p.Val140Ala) rs1057519447
NM_012160.4(FBXL4):c.513-1G>A rs1554221258
NM_012160.4(FBXL4):c.616C>T (p.Arg206Ter) rs964532159
NM_012160.4(FBXL4):c.64C>T (p.Arg22Ter) rs200440128
NM_012160.4(FBXL4):c.827delA (p.Asn276Ilefs) rs1240941970
NM_012160.4(FBXL4):c.858+1G>T rs1394080480
NM_012160.4(FBXL4):c.859-1G>T rs368965675

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