ClinVar Miner

List of variants studied for Agammaglobulinemia 2, autosomal recessive by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) rs143780139 0.00213
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020070.4(IGLL1):c.521delinsAT (p.Ala174fs)

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