ClinVar Miner

List of variants in gene FAT4 reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001291303.3(FAT4):c.12851C>T (p.Ser4284Phe) rs199682210 0.00013
NM_001291303.3(FAT4):c.11461C>T (p.Arg3821Ter) rs398122957
NM_001291303.3(FAT4):c.1195del (p.Leu399fs) rs587777725
NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe) rs398122953
NM_001291303.3(FAT4):c.13199G>A (p.Cys4400Tyr) rs398122954
NM_001291303.3(FAT4):c.14518_14519del (p.Ser4840fs) rs398122956
NM_001291303.3(FAT4):c.7035TGGAAC[3] (p.2346GT[3]) rs587777724
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) rs398122955
NM_001291303.3(FAT4):c.7204A>C (p.Arg2402=) rs587777726
NM_001291303.3(FAT4):c.9487G>T (p.Glu3163Ter) rs370088878

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