ClinVar Miner

List of variants studied for Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001321396.3(IKBKG):c.-16+3G>A	rs782367664	0.00003
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly)	rs2148383298

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