ClinVar Miner

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

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Total variants: 3
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NM_000280.4(PAX6):c.-118_-117delTT rs1554986858
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651

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