ClinVar Miner

List of variants in gene FGD4 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 21
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HGVS dbSNP
NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs) rs1565921326
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs) rs751035912
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr) rs755934741
NM_139241.3(FGD4):c.1132+1G>A rs1592388367
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1630G>A (p.Val544Ile) rs0
NM_139241.3(FGD4):c.1698G>A (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.1772G>A (p.Trp591Ter) rs1592488602
NM_139241.3(FGD4):c.1886_1889del (p.Arg629fs) rs1592489096
NM_139241.3(FGD4):c.1890_1894del (p.Lys630fs) rs1592489165
NM_139241.3(FGD4):c.2095A>G (p.Met699Val) rs140220443
NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr) rs0
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) rs201826412
NM_139241.3(FGD4):c.514dup (p.Ala172fs) rs1565869918
NM_139241.3(FGD4):c.691-5T>A rs0
NM_139241.3(FGD4):c.837-1G>A rs1592368399
NM_139241.3(FGD4):c.837-2A>G rs1592368395
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu) rs143251785

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