ClinVar Miner

List of variants in gene FBXL4 reported as pathogenic for Mitochondrial DNA depletion syndrome 13

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
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.106A>T (p.Arg36Ter) rs1182326570 0.00001
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) rs964532159 0.00001
NM_001278716.2(FBXL4):c.859-1G>T rs368965675 0.00001
GRCh37/hg19 6q16.1(chr6:99347158-99374801)
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter) rs1187832552
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.141del (p.Asn48fs)
NM_001278716.2(FBXL4):c.1440dup (p.Leu481fs) rs879255542
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.1641_1642del (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.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.219T>A (p.Tyr73Ter) rs747536886
NM_001278716.2(FBXL4):c.273_277del (p.Phe91fs) rs766892502
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter) rs1554222122
NM_001278716.2(FBXL4):c.326del (p.Ser109fs) rs761215749
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter) rs1562245046
NM_001278716.2(FBXL4):c.513-1G>A rs1554221258
NM_001278716.2(FBXL4):c.517G>T (p.Glu173Ter)
NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs) rs886041625
NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter) rs1582425406
NM_001278716.2(FBXL4):c.627_633del (p.Asn210fs) rs1582425360
NM_001278716.2(FBXL4):c.736dup (p.Ile246fs) rs2128400842
NM_001278716.2(FBXL4):c.858+1G>T rs1394080480

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