ClinVar Miner

List of variants in gene combination G6PD, IKBKG, LOC108281126 reported as uncertain significance for Immunodeficiency 33; Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.120+3646C>T rs782367664 0.00003

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