ClinVar Miner

List of variants in gene FAT4 studied for Hennekam lymphangiectasia-lymphedema syndrome 2

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Total variants: 19
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HGVS dbSNP
NM_001291303.3(FAT4):c.11706T>G (p.Asp3902Glu)
NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr)
NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser)
NM_001291303.3(FAT4):c.2290G>A (p.Val764Ile)
NM_001291303.3(FAT4):c.4432A>G (p.Ile1478Val)
NM_001291303.3(FAT4):c.5161A>G (p.Thr1721Ala)
NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly)
NM_001291303.3(FAT4):c.6515A>C (p.Asp2172Ala)
NM_001291303.3(FAT4):c.7035TGGAAC[3] (p.2346GT[3]) rs587777724
NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=)
NM_001291303.3(FAT4):c.8753A>G (p.Glu2918Gly)
NM_001291303.3(FAT4):c.9152C>A (p.Ser3051Tyr)
NM_024582.4(FAT4):c.1195del (p.Leu399fs) rs587777725
NM_024582.4(FAT4):c.12641G>A (p.Arg4214His) rs148170326
NM_024582.4(FAT4):c.12845C>T (p.Ser4282Phe) rs199682210
NM_024582.4(FAT4):c.5275A>G (p.Ile1759Val) rs145639192
NM_024582.4(FAT4):c.7103C>A (p.Ala2368Glu) rs116568645
NM_024582.4(FAT4):c.7123G>A (p.Glu2375Lys) rs398122955
NM_024582.4(FAT4):c.7200-2A>C rs587777726

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