ClinVar Miner

List of variants in gene FGD4 reported as pathogenic for Charcot-Marie-Tooth disease type 4

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Total variants: 6
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HGVS dbSNP
NC_000012.11:g.(?_32729286)_(32772810_?)del
NM_001304480.1(FGD4):c.2199_2200CA[1] (p.Thr734fs) rs1555223595
NM_139241.3(FGD4):c.1043del (p.Pro348fs)
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) rs778377449
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267

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