ClinVar Miner

List of variants in gene FGD4 reported as likely pathogenic

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Total variants: 7
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GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
NM_001370298.3(FGD4):c.658C>T (p.Gln220Ter)
NM_139241.3(FGD4):c.2005dup (p.Gln669fs) rs1555224772
NM_139241.3(FGD4):c.2176G>T (p.Glu726Ter) rs771529170
NM_139241.3(FGD4):c.494dup (p.Leu167fs) rs1592294998
NM_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267

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