ClinVar Miner

List of variants in gene FGD4 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=) rs34555341 0.00555
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 0.00161
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met) rs200732890 0.00030
NM_001370298.3(FGD4):c.1922+11C>T rs765969178 0.00004
NM_001370298.3(FGD4):c.2373G>A (p.Glu791=) rs201822384 0.00003
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=) rs773609461 0.00002
NM_001370298.3(FGD4):c.1248-13A>G rs551481786 0.00001
NM_001370298.3(FGD4):c.1602+7G>A rs369751598 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.1248-16dup rs368420700
NM_001370298.3(FGD4):c.1609C>T (p.Leu537=) rs750265200
NM_001370298.3(FGD4):c.1824T>G (p.Val608=) rs1949688594

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