ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease, type 4H

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Total variants: 12
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HGVS dbSNP
FGD4, 893T-G
NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs) rs1565921326
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1698G>H (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter) rs118203973
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.2211dup (p.Ala738fs) rs1565942358
NM_139241.3(FGD4):c.514del (p.Ala172fs) rs1565869918
NM_139241.3(FGD4):c.670C>T (p.Arg224Ter) rs118203972
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) rs118203974
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871

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