ClinVar Miner

List of variants in gene FAT4 reported as uncertain significance for Hennekam lymphangiectasia-lymphedema syndrome 2

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu) rs116568645 0.00066
NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His) rs148170326 0.00041
NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met) rs141773516 0.00033
NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala) rs151209952 0.00019
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) rs147314754 0.00015
NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=) rs148344513 0.00012
NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr) rs140544054 0.00009
NM_001291303.3(FAT4):c.4543G>A (p.Val1515Met) rs773912269 0.00006
NM_001291303.3(FAT4):c.11134G>T (p.Asp3712Tyr) rs769490380 0.00001
NM_001291303.3(FAT4):c.2290G>A (p.Val764Ile) rs746714727 0.00001
NM_001291303.3(FAT4):c.8753A>G (p.Glu2918Gly) rs762206992 0.00001
NM_001291303.3(FAT4):c.9152C>A (p.Ser3051Tyr) rs866162018 0.00001
NM_001291303.3(FAT4):c.11706T>G (p.Asp3902Glu) rs774612831
NM_001291303.3(FAT4):c.12479+3A>G rs2126083898
NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser) rs1727627190
NM_001291303.3(FAT4):c.3808A>C (p.Ile1270Leu)
NM_001291303.3(FAT4):c.4143A>T (p.Glu1381Asp)
NM_001291303.3(FAT4):c.4432A>G (p.Ile1478Val) rs200565115
NM_001291303.3(FAT4):c.5161A>G (p.Thr1721Ala) rs904769252
NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly) rs746510253
NM_001291303.3(FAT4):c.6515A>C (p.Asp2172Ala) rs1328569048

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