ClinVar Miner

List of variants studied for T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001369369.1(FOXN1):c.475G>A (p.Glu159Lys) rs147463732 0.00007
NM_001369369.1(FOXN1):c.1267C>G (p.Leu423Val)
NM_001369369.1(FOXN1):c.460C>A (p.Pro154Thr)
NM_001369369.1(FOXN1):c.704C>G (p.Ser235Trp)

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