ClinVar Miner

List of variants in gene FGD4 studied for Charcot-Marie-Tooth disease

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Total variants: 14
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HGVS dbSNP
NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs) rs1565921326
NM_001304480.1(FGD4):c.2213_2217AAAAG[2] (p.Lys742fs) rs751035912
NM_139241.3(FGD4):c.1132+1G>A
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1698G>A (p.Met566Ile)
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.1772G>A (p.Trp591Ter)
NM_139241.3(FGD4):c.1886_1889del (p.Arg629fs)
NM_139241.3(FGD4):c.1890_1894del (p.Lys630fs)
NM_139241.3(FGD4):c.514dup (p.Ala172fs)
NM_139241.3(FGD4):c.837-1G>A
NM_139241.3(FGD4):c.837-2A>G
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871

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