ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012092.4(ICOS):c.150A>G (p.Gln50=) rs55972840 0.02252
NM_012092.4(ICOS):c.501+7G>A rs57149344 0.02252
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_012092.4(ICOS):c.395-19A>G

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