ClinVar Miner

List of variants studied for Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.120+3646C>T rs782367664 0.00003
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) rs2148383298

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