ClinVar Miner

List of variants in gene FAT4 studied for Van Maldergem syndrome 2

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001291303.3(FAT4):c.7199+29T>G rs7656135 0.99289
NM_001291303.3(FAT4):c.7707G>C (p.Val2569=) rs988863 0.99289
NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn) rs12650153 0.99272
NM_001291303.3(FAT4):c.6843+29G>T rs10010000 0.99271
NM_001291303.3(FAT4):c.5760T>C (p.Asp1920=) rs958415 0.99029
NM_001291303.3(FAT4):c.2944T>C (p.Leu982=) rs2940779 0.74871
NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=) rs1014866 0.74715
NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=) rs2710555 0.73896
NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val) rs1039808 0.46652
NM_001291303.3(FAT4):c.12214-5C>T rs17009761 0.38645
NM_001291303.3(FAT4):c.12822+28T>G rs11098815 0.34175
NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp) rs1567047 0.21721
NM_001291303.3(FAT4):c.13623G>A (p.Glu4541=) rs62312781 0.19007
NM_001291303.3(FAT4):c.6585T>C (p.Asn2195=) rs17009618 0.14565
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile) rs144506470 0.00047
NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala) rs151209952 0.00019
NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala) rs200138872 0.00017
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) rs769424345 0.00001
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly) rs764097811 0.00001
NM_001291303.3(FAT4):c.11461C>T (p.Arg3821Ter) rs398122957
NM_001291303.3(FAT4):c.11800+1G>T rs963302668
NM_001291303.3(FAT4):c.1219T>C (p.Phe407Leu)
NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe) rs398122953
NM_001291303.3(FAT4):c.13178A>T (p.Asp4393Val)
NM_001291303.3(FAT4):c.13199G>A (p.Cys4400Tyr) rs398122954
NM_001291303.3(FAT4):c.13247T>A (p.Leu4416Gln)
NM_001291303.3(FAT4):c.13385G>A (p.Arg4462Lys) rs1727568738
NM_001291303.3(FAT4):c.13399G>A (p.Val4467Met) rs1215405311
NM_001291303.3(FAT4):c.13402G>A (p.Val4468Met) rs1727569638
NM_001291303.3(FAT4):c.13525G>C (p.Ala4509Pro) rs1553931010
NM_001291303.3(FAT4):c.13582dup (p.Cys4528fs)
NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu) rs6847454
NM_001291303.3(FAT4):c.14518_14519del (p.Ser4840fs) rs398122956
NM_001291303.3(FAT4):c.1489A>G (p.Ile497Val)
NM_001291303.3(FAT4):c.2461G>C (p.Asp821His)
NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln) rs1730871419
NM_001291303.3(FAT4):c.4143A>T (p.Glu1381Asp)
NM_001291303.3(FAT4):c.6982G>T (p.Glu2328Ter)
NM_001291303.3(FAT4):c.7018+1G>A rs2126029076
NM_001291303.3(FAT4):c.7114A>G (p.Thr2372Ala)
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) rs398122955
NM_001291303.3(FAT4):c.9487G>T (p.Glu3163Ter) rs370088878

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