ClinVar Miner

List of variants in gene FOXL2 reported as pathogenic for blepharophimosis, ptosis, and epicanthus inversus syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_023067.3(FOXL2):c.661GCN[15_24] (p.Ala221[(15_24)])
NM_023067.3(FOXL2):c.684684AGCTGCGGCTGCAGC[3] (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs387906322
NM_023067.4(FOXL2):c.1011del (p.Thr338fs) rs1057516185
NM_023067.4(FOXL2):c.102dup (p.Gly35fs) rs1553752945
NM_023067.4(FOXL2):c.1103del (p.Gly368fs) rs1559921677
NM_023067.4(FOXL2):c.142_173delinsGCGCT (p.Lys48_Ser58delinsAlaLeu) rs672601357
NM_023067.4(FOXL2):c.15C>A (p.Tyr5Ter) rs1057516139
NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu) rs1559922657
NM_023067.4(FOXL2):c.171C>G (p.Tyr57Ter) rs1057516141
NM_023067.4(FOXL2):c.173C>A (p.Ser58Ter) rs1057516142
NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs) rs1559922628
NM_023067.4(FOXL2):c.18del (p.Glu7fs) rs1559922829
NM_023067.4(FOXL2):c.205G>T (p.Glu69Ter) rs387906920
NM_023067.4(FOXL2):c.223C>T (p.Leu75Phe)
NM_023067.4(FOXL2):c.293G>A (p.Trp98Ter) rs1057516150
NM_023067.4(FOXL2):c.338del (p.Ile113fs) rs1057516158
NM_023067.4(FOXL2):c.340A>T (p.Lys114Ter) rs1057516159
NM_023067.4(FOXL2):c.353_476dup (p.His159fs) rs1553752890
NM_023067.4(FOXL2):c.377_380dup (p.Tyr127Ter) rs1559922476
NM_023067.4(FOXL2):c.384G>A (p.Trp128Ter) rs1559922472
NM_023067.4(FOXL2):c.384del (p.Tyr127_Trp128insTer) rs1559922473
NM_023067.4(FOXL2):c.387del (p.Leu130fs) rs1559922470
NM_023067.4(FOXL2):c.399del (p.Cys134fs) rs1559922462
NM_023067.4(FOXL2):c.43del (p.Leu15fs) rs1057516140
NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs) rs1559922381
NM_023067.4(FOXL2):c.490A>T (p.Lys164Ter) rs1060499717
NM_023067.4(FOXL2):c.525del (p.Cys176fs) rs1559922308
NM_023067.4(FOXL2):c.52_53del (p.Pro18fs) rs1559922782
NM_023067.4(FOXL2):c.549dup (p.Asp184fs) rs1559922261
NM_023067.4(FOXL2):c.551dup (p.Asp184fs) rs1559922257
NM_023067.4(FOXL2):c.55G>T (p.Glu19Ter) rs759236439
NM_023067.4(FOXL2):c.576dup (p.Lys193fs) rs1057516161
NM_023067.4(FOXL2):c.582C>G (p.Tyr194Ter) rs1057516163
NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter) rs104893739
NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter) rs1057516164
NM_023067.4(FOXL2):c.618del (p.Pro207fs) rs1057516165
NM_023067.4(FOXL2):c.630_651dup (p.Cys218fs) rs1057516166
NM_023067.4(FOXL2):c.632C>A (p.Ser211Ter) rs1057516167
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys) rs1057516168
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) rs104893741
NM_023067.4(FOXL2):c.662_689del (p.Ala221fs) rs1057516170
NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup) rs764243782
NM_023067.4(FOXL2):c.669_681del (p.Ala224fs) rs1559922136
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) rs387906321
NM_023067.4(FOXL2):c.674_695del (p.Ala225fs) rs1057516172
NM_023067.4(FOXL2):c.674_703dup (p.Ala225_Ala234dup) rs1057516173
NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs) rs1559922033
NM_023067.4(FOXL2):c.678_705del (p.Ala227fs) rs1057516174
NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro) rs1553752849
NM_023067.4(FOXL2):c.748_749del (p.Gly250fs) rs1057516175
NM_023067.4(FOXL2):c.768dup (p.Pro257fs)
NM_023067.4(FOXL2):c.773del (p.Tyr258fs) rs1559922026
NM_023067.4(FOXL2):c.777dup (p.Arg260fs) rs1057516176
NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter) rs1559922013
NM_023067.4(FOXL2):c.804del (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter) rs1559921973
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) rs104893738
NM_023067.4(FOXL2):c.827dup (p.Leu277fs) rs1057516178
NM_023067.4(FOXL2):c.840_871del (p.Ala283fs) rs1057516179
NM_023067.4(FOXL2):c.841_842insT (p.Pro281fs) rs1559921944
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs) rs797044529
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023067.4(FOXL2):c.854del (p.Pro285fs) rs797044531
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) rs797044532
NM_023067.4(FOXL2):c.855_871dup (p.His291fs) rs797044532
NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs) rs1057516180
NM_023067.4(FOXL2):c.892dup (p.His298fs) rs1057516181
NM_023067.4(FOXL2):c.901_911dup (p.Pro305fs) rs1559921874
NM_023067.4(FOXL2):c.907_926dup (p.His312fs) rs1057516182
NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs) rs1559921800
NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs) rs1559921849
NM_023067.4(FOXL2):c.948_955del (p.Pro317fs) rs1576469579
NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs) rs1057516183
NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs) rs672601358
NM_023067.4(FOXL2):c.982del (p.Ala328fs) rs1057516184
NM_023067.4(FOXL2):c.998dup (p.Ala334fs) rs1559921797

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