ClinVar Miner

List of variants reported as likely pathogenic for Blepharophimosis, ptosis, and epicanthus inversus

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Total variants: 22
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HGVS dbSNP
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.175T>G (p.Tyr59Asp) rs1559922634
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup) rs863225452
NM_023067.4(FOXL2):c.187A>C (p.Ile63Leu) rs1057516144
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn) rs1315073489
NM_023067.4(FOXL2):c.193A>G (p.Met65Val) rs1559922621
NM_023067.4(FOXL2):c.195G>A (p.Met65Ile) rs1057516145
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.292T>C (p.Trp98Arg) rs1057516149
NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp) rs1559922528
NM_023067.4(FOXL2):c.303C>G (p.Ser101Arg) rs1057516151
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.316C>T (p.Leu106Phe) rs1057516156
NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly) rs1057516157
NM_023067.4(FOXL2):c.335_337TCA[1] (p.Ile113del) rs1559922498
NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu) rs1057516159
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) rs797044527

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