ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 2 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5
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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.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_012452.3(TNFRSF13B):c.418G>A (p.Glu140Lys) rs199578237 0.00001
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379

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