ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 2 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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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.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_012452.3(TNFRSF13B):c.515G>A (p.Cys172Tyr) rs751216929 0.00020
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_012452.3(TNFRSF13B):c.797C>T (p.Thr266Ile) rs752825527 0.00011
NM_012452.3(TNFRSF13B):c.122A>G (p.Asp41Gly) rs763197017 0.00003

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