ClinVar Miner

List of variants reported as uncertain significance 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: 13
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NM_023067.4(FOXL2):c.184_198dup (p.Leu62_Ala66dup) rs1057516143
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.308G>A (p.Arg103His) rs1057516152
NM_023067.4(FOXL2):c.308G>T (p.Arg103Leu) rs1057516152
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.389T>A (p.Leu130Gln) rs1057516160
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg) rs1057516162
NM_023067.4(FOXL2):c.647C>T (p.Ala216Val) rs565208053
NM_023067.4(FOXL2):c.656A>T (p.Gln219Leu) rs1057516169

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