ClinVar Miner

List of variants in gene FBXL4 studied for Inborn genetic diseases

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala) rs142853738 0.00024
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.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.8C>T (p.Pro3Leu) rs561491659 0.00003
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter) rs1182326570 0.00001
NM_001278716.2(FBXL4):c.493A>C (p.Asn165His) rs761003289 0.00001
NM_001278716.2(FBXL4):c.736A>G (p.Ile246Val) rs148621221 0.00001
NM_001278716.2(FBXL4):c.1028G>A (p.Arg343His)
NM_001278716.2(FBXL4):c.1056A>T (p.Leu352Phe) rs779748858
NM_001278716.2(FBXL4):c.1075G>A (p.Gly359Ser)
NM_001278716.2(FBXL4):c.115G>A (p.Glu39Lys)
NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu) rs779731686
NM_001278716.2(FBXL4):c.1740_1742del (p.Leu581del) rs1770579596
NM_001278716.2(FBXL4):c.1837G>C (p.Val613Leu)
NM_001278716.2(FBXL4):c.35C>G (p.Thr12Ser)
NM_001278716.2(FBXL4):c.397C>T (p.Gln133Ter)
NM_001278716.2(FBXL4):c.422A>G (p.His141Arg)
NM_001278716.2(FBXL4):c.827del (p.Asn276fs) rs1240941970
NM_001278716.2(FBXL4):c.832G>T (p.Gly278Trp)
NM_001278716.2(FBXL4):c.989C>G (p.Ala330Gly) rs368886622

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