ClinVar Miner

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

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_001370298.3(FGD4):c.2047-7T>C rs11052113 0.15104
NM_001370298.3(FGD4):c.1750-12C>T rs73083501 0.08851
NM_001370298.3(FGD4):c.1404+8G>A rs12823621 0.07737
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=) rs60803891 0.01632
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=) rs34555341 0.00517
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) rs145115430 0.00213
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) rs138160928 0.00168
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00152
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_001370298.3(FGD4):c.167-29728T>C rs561223009 0.00065
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met) rs200732890 0.00030
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp) rs201826412 0.00024
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile) rs528790143 0.00011
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu) rs143251785 0.00011
NM_001370298.3(FGD4):c.1922+11C>T rs765969178 0.00004
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=) rs773609461 0.00003
NM_001370298.3(FGD4):c.2373G>A (p.Glu791=) rs201822384 0.00003
NM_001370298.3(FGD4):c.1102-5T>A rs1459339879 0.00001
NM_001370298.3(FGD4):c.1248-13A>G rs551481786 0.00001
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr) rs755934741 0.00001
NM_001370298.3(FGD4):c.1602+7G>A rs369751598 0.00001
NM_001370298.3(FGD4):c.2041G>A (p.Val681Ile) rs753988910 0.00001
NM_001370298.3(FGD4):c.2631A>G (p.Thr877=) rs142377910 0.00001
NM_001370298.3(FGD4):c.612C>T (p.Leu204=) rs141920723 0.00001
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr) rs201660852 0.00001
NM_001370298.3(FGD4):c.-35G>T
NM_001370298.3(FGD4):c.1248-16dup rs368420700
NM_001370298.3(FGD4):c.1248-1G>A rs1592368399
NM_001370298.3(FGD4):c.1248-2A>G rs1592368395
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr) rs63749871
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.1543+1G>A rs1592388367
NM_001370298.3(FGD4):c.1609C>T (p.Leu537=) rs750265200
NM_001370298.3(FGD4):c.167-29682T>A
NM_001370298.3(FGD4):c.1736G>A (p.Arg579His) rs281865063
NM_001370298.3(FGD4):c.1824T>G (p.Val608=) rs1949688594
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs) rs1565921326
NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile) rs281865064
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.2173-2A>G rs281865065
NM_001370298.3(FGD4):c.2183G>A (p.Trp728Ter) rs1592488602
NM_001370298.3(FGD4):c.2297_2300del (p.Arg766fs) rs1592489096
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs) rs751035912
NM_001370298.3(FGD4):c.2301_2305del (p.Lys767fs) rs1592489165
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) rs904582
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_001370298.3(FGD4):c.925dup (p.Ala309fs) rs1565869918

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