ClinVar Miner

List of variants reported for Immunodeficiency, common variable, 12 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2818A>C (p.Thr940Pro)

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