ClinVar Miner

List of variants in gene FBXL4 studied for hereditary peripheral neuropathy

Included ClinVar conditions (489):
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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NC_000006.11:g.(99328501_99347143)_(99375699_99395681)del
NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)
NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs) rs2128375658

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