ClinVar Miner

List of variants reported as likely pathogenic for anterior segment dysgenesis by Genetics Department, University Hospital of Toulouse

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_000325.6(PITX2):c.332T>C (p.Phe111Ser) rs1729003669
NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)
NM_006744.4(RBP4):c.383A>G (p.Asp128Gly)
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651

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