ClinVar Miner

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

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 64
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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.14361C>T (p.Val4787=) rs1014865 0.01862
NM_001291303.3(FAT4):c.8592G>A (p.Val2864=) rs111758803 0.01583
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_001291303.3(FAT4):c.2919C>T (p.Val973=) rs144356360 0.00083
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu) rs116568645 0.00066
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly) rs79909102 0.00061
NM_001291303.3(FAT4):c.185G>C (p.Gly62Ala) rs201009019 0.00045
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.10643A>G (p.Tyr3548Cys) rs79726583 0.00015
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) rs147314754 0.00015
NM_001291303.3(FAT4):c.12851C>T (p.Ser4284Phe) rs199682210 0.00013
NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=) rs148344513 0.00012
NM_001291303.3(FAT4):c.14935G>A (p.Ala4979Thr) rs17009858 0.00011
NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr) rs200702071 0.00011
NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr) rs140544054 0.00009
NM_001291303.3(FAT4):c.7312G>T (p.Val2438Phe) rs376545643 0.00009
NM_001291303.3(FAT4):c.4543G>A (p.Val1515Met) rs773912269 0.00006
NM_001291303.3(FAT4):c.4081G>A (p.Gly1361Arg) rs200361960 0.00004
NM_001291303.3(FAT4):c.9235A>G (p.Ile3079Val) rs138817920 0.00004
NM_001291303.3(FAT4):c.11134G>T (p.Asp3712Tyr) rs769490380 0.00001
NM_001291303.3(FAT4):c.14273C>T (p.Pro4758Leu) rs1405492776 0.00001
NM_001291303.3(FAT4):c.2290G>A (p.Val764Ile) rs746714727 0.00001
NM_001291303.3(FAT4):c.8216C>A (p.Ser2739Tyr) rs748854090 0.00001
NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile) rs564305264 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.1195del (p.Leu399fs) rs587777725
NM_001291303.3(FAT4):c.12479+3A>G rs2126083898
NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter)
NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu) rs6847454
NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser) rs1727627190
NM_001291303.3(FAT4):c.3135C>T (p.Gly1045=)
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.5355T>G (p.Asp1785Glu) rs778606448
NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly) rs746510253
NM_001291303.3(FAT4):c.6515A>C (p.Asp2172Ala) rs1328569048
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.7466C>A (p.Ala2489Glu) rs144853732
NM_001291303.3(FAT4):c.9517T>G (p.Trp3173Gly)

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