ClinVar Miner

List of variants in gene FAT4 reported as pathogenic

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Gene type:
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Total variants: 35
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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.10011T>G (p.Tyr3337Ter)
NM_001291303.3(FAT4):c.10030C>T (p.Arg3344Ter)
NM_001291303.3(FAT4):c.10339G>T (p.Gly3447Ter)
NM_001291303.3(FAT4):c.11461C>T (p.Arg3821Ter) rs398122957
NM_001291303.3(FAT4):c.11800+1G>T rs963302668
NM_001291303.3(FAT4):c.1195del (p.Leu399fs) rs587777725
NM_001291303.3(FAT4):c.12240_12244del (p.Cys4080_Glu4082delinsTer)
NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe) rs398122953
NM_001291303.3(FAT4):c.12686_12687dup (p.Leu4230fs)
NM_001291303.3(FAT4):c.13199G>A (p.Cys4400Tyr) rs398122954
NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter)
NM_001291303.3(FAT4):c.14518_14519del (p.Ser4840fs) rs398122956
NM_001291303.3(FAT4):c.1599del (p.Thr534fs)
NM_001291303.3(FAT4):c.2632_2633del (p.Met878fs)
NM_001291303.3(FAT4):c.2921del (p.Pro974fs) rs2125942518
NM_001291303.3(FAT4):c.3040C>T (p.Arg1014Ter)
NM_001291303.3(FAT4):c.3922G>T (p.Glu1308Ter)
NM_001291303.3(FAT4):c.4480_4481insG (p.Leu1494fs)
NM_001291303.3(FAT4):c.5261del (p.Gly1754fs)
NM_001291303.3(FAT4):c.5768del (p.Gly1923fs)
NM_001291303.3(FAT4):c.6700C>T (p.Arg2234Ter) rs567305960
NM_001291303.3(FAT4):c.7018+1G>A rs2126029076
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.7504G>T (p.Glu2502Ter)
NM_001291303.3(FAT4):c.7670del (p.Thr2557fs)
NM_001291303.3(FAT4):c.7919G>A (p.Trp2640Ter)
NM_001291303.3(FAT4):c.835G>T (p.Glu279Ter) rs373298045
NM_001291303.3(FAT4):c.8536C>T (p.Arg2846Ter)
NM_001291303.3(FAT4):c.8573_8574del (p.Thr2858fs)
NM_001291303.3(FAT4):c.9125G>A (p.Trp3042Ter)
NM_001291303.3(FAT4):c.9487G>T (p.Glu3163Ter) rs370088878
NM_001291303.3(FAT4):c.952C>T (p.Gln318Ter)

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