ClinVar Miner

List of variants reported as uncertain significance for T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001369369.1(FOXN1):c.382C>T (p.Arg128Trp) rs144301161 0.00190
NM_001369369.1(FOXN1):c.1050G>A (p.Pro350=) rs150671729 0.00004
NM_001369369.1(FOXN1):c.1585del (p.Leu529fs) rs1161194345
NM_001369369.1(FOXN1):c.1945T>G (p.Ter649Gly) rs2508445156

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