ClinVar Miner

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

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Total variants: 49
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HGVS dbSNP
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs) rs1565921326
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs) 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.1191+7G>A
NM_139241.3(FGD4):c.1198C>T (p.Leu400=)
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1339-12C>T rs73083501
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1413T>G (p.Val471=)
NM_139241.3(FGD4):c.1511+11C>T
NM_139241.3(FGD4):c.1515T>C (p.Ser505=) rs60803891
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1630G>A (p.Val544Ile)
NM_139241.3(FGD4):c.1636-7T>C rs11052113
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.1698G>A (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
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.1962G>A (p.Glu654=) rs201822384
NM_139241.3(FGD4):c.201C>T (p.Leu67=) rs141920723
NM_139241.3(FGD4):c.2095A>G (p.Met699Val) rs140220443
NM_139241.3(FGD4):c.2220A>G (p.Thr740=)
NM_139241.3(FGD4):c.236C>T (p.Thr79Ile) rs145115430
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr)
NM_139241.3(FGD4):c.374C>T (p.Thr125Met) rs200732890
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) rs904582
NM_139241.3(FGD4):c.435C>T (p.Asp145=) rs904582
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
NM_139241.3(FGD4):c.732G>A (p.Ser244=) rs34555341
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.837-13A>G
NM_139241.3(FGD4):c.837-16dup rs368420700
NM_139241.3(FGD4):c.837-1G>A rs1592368399
NM_139241.3(FGD4):c.837-2A>G rs1592368395
NM_139241.3(FGD4):c.852A>G (p.Arg284=) rs773609461
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
NM_139241.3(FGD4):c.993+8G>A rs12823621

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