ClinVar Miner

List of variants reported as likely pathogenic for canthal anomaly by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_023067.4(FOXL2):c.187A>C (p.Ile63Leu) rs1057516144
NM_023067.4(FOXL2):c.195G>A (p.Met65Ile) rs1057516145
NM_023067.4(FOXL2):c.292T>C (p.Trp98Arg) rs1057516149
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.316C>T (p.Leu106Phe) rs1057516156
NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly) rs1057516157
NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu) rs1057516159

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