ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 10 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001322934.2(NFKB2):c.2085T>A (p.His695Gln) rs773328166 0.00001
NM_001322934.2(NFKB2):c.361G>A (p.Ala121Thr) rs781738940 0.00001
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) rs727502787
NM_001322934.2(NFKB2):c.2596dup (p.Ser866fs)
NM_001322934.2(NFKB2):c.657C>T (p.Asp219=) rs565849275
NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr) rs751520286

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