ClinVar Miner

List of variants reported as likely pathogenic by Genetics Department, University Hospital of Toulouse

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Total variants: 13
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NM_000280.4(PAX6):c.-118_-117del rs1554986858
NM_000325.6(PITX2):c.332T>C (p.Phe111Ser)
NM_000965.5(RARB):c.1151G>A (p.Gly384Asp)
NM_003106.4(SOX2):c.22G>T (p.Glu8Ter)
NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)
NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu) rs1595941823
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623
NM_006439.5(MAB21L2):c.1A>C (p.Met1Leu)
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651

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