ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His) rs55916807 0.00261
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_012452.3(TNFRSF13B):c.145T>C (p.Ser49Pro) rs374547688 0.00023
NM_012452.3(TNFRSF13B):c.592C>T (p.Arg198Cys) rs140781824 0.00016
NM_012452.3(TNFRSF13B):c.34C>T (p.Arg12Trp) rs779924436 0.00006

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