ClinVar Miner

List of variants studied for blepharophimosis, ptosis, and epicanthus inversus syndrome by Wessex Regional Genetics Laboratory, Salisbury District Hospital

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_023067.4(FOXL2):c.1103del (p.Gly368fs) rs1559921677
NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu) rs1559922657
NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn) rs1559922647
NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp) rs1057516142
NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs) rs1559922628
NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp) rs1559922634
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup) rs863225452
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn) rs1315073489
NM_023067.4(FOXL2):c.18del (p.Glu7fs) rs1559922829
NM_023067.4(FOXL2):c.193A>G (p.Met65Val) rs1559922621
NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro) rs1559922577
NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile) rs1559922558
NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg) rs1226344391
NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp) rs1559922528
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.335TCA[1] (p.Ile113del) rs1559922498
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.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.399del (p.Cys134fs) rs1559922462
NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs) rs1559922381
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.650C>T (p.Ser217Phe) rs797044527
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.675_769dup (p.Pro257fs) rs1559922033
NM_023067.4(FOXL2):c.718G>T (p.Gly240Cys) rs767088367
NM_023067.4(FOXL2):c.773del (p.Tyr258fs) rs1559922026
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.841_842insT (p.Pro281fs) rs1559921944
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
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.901_911dup (p.Pro305fs) rs1559921874
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.965_983dup (p.Thr329fs) rs672601358
NM_023067.4(FOXL2):c.998dup (p.Ala334fs) rs1559921797

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