ClinVar Miner

List of variants reported as pathogenic for Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147

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