ClinVar Miner

List of variants studied for blepharophimosis, ptosis, and epicanthus inversus syndrome by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_023067.4(FOXL2):c.536C>G (p.Ala179Gly) rs7432551 0.12148
NM_023067.4(FOXL2):c.501C>T (p.Phe167=) rs61750361 0.11764
NM_023067.4(FOXL2):c.647C>T (p.Ala216Val) rs565208053 0.00002
NM_023067.4(FOXL2):c.195G>A (p.Met65Ile) rs1057516145 0.00001
NM_023067.4(FOXL2):c.1011del (p.Thr338fs) rs1057516185
NM_023067.4(FOXL2):c.15C>A (p.Tyr5Ter) rs1057516139
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.184_198dup (p.Leu62_Ala66dup) rs1057516143
NM_023067.4(FOXL2):c.187A>C (p.Ile63Leu) rs1057516144
NM_023067.4(FOXL2):c.205G>T (p.Glu69Ter) rs387906920
NM_023067.4(FOXL2):c.208A>G (p.Ser70Gly) rs1057516146
NM_023067.4(FOXL2):c.233C>A (p.Ser78Tyr) rs1057516147
NM_023067.4(FOXL2):c.256G>C (p.Ala86Pro) rs1057516148
NM_023067.4(FOXL2):c.292T>C (p.Trp98Arg) rs1057516149
NM_023067.4(FOXL2):c.293G>A (p.Trp98Ter) rs1057516150
NM_023067.4(FOXL2):c.303C>G (p.Ser101Arg) rs1057516151
NM_023067.4(FOXL2):c.308G>A (p.Arg103His) rs1057516152
NM_023067.4(FOXL2):c.308G>T (p.Arg103Leu) rs1057516152
NM_023067.4(FOXL2):c.311A>G (p.His104Arg) rs1057516153
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023067.4(FOXL2):c.314_319del (p.Asn105_Leu106del) rs1057516155
NM_023067.4(FOXL2):c.316C>T (p.Leu106Phe) rs1057516156
NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly) rs1057516157
NM_023067.4(FOXL2):c.338del (p.Ile113fs) rs1057516158
NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu) rs1057516159
NM_023067.4(FOXL2):c.353_476dup (p.His159fs) rs1553752890
NM_023067.4(FOXL2):c.389T>A (p.Leu130Gln) rs1057516160
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.43del (p.Leu15fs) rs1057516140
NM_023067.4(FOXL2):c.576dup (p.Lys193fs) rs1057516161
NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg) rs1057516162
NM_023067.4(FOXL2):c.582C>G (p.Tyr194Ter) rs1057516163
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.656A>T (p.Gln219Leu) rs1057516169
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.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.678_705del (p.Ala227fs) rs1057516174
NM_023067.4(FOXL2):c.748_749del (p.Gly250fs) rs1057516175
NM_023067.4(FOXL2):c.777dup (p.Arg260fs) rs1057516176
NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr) rs753641620
NM_023067.4(FOXL2):c.804del (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
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_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_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.907_926dup (p.His312fs) rs1057516182
NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs) rs1057516183
NM_023067.4(FOXL2):c.982del (p.Ala328fs) rs1057516184

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.