ClinVar Miner

List of variants in gene FGD4 reported as pathogenic by Invitae

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Total variants: 14
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NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter)
NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs)
NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs) rs1555223595
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs) rs751035912
NM_001370298.3(FGD4):c.616del (p.Gln206fs)
NM_139241.3(FGD4):c.1043del (p.Pro348fs) rs1592387932
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) rs778377449
NM_139241.3(FGD4):c.613C>T (p.Gln205Ter)
NM_139241.3(FGD4):c.640del (p.Leu214fs)
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) rs118203974
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267

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