ClinVar Miner

List of variants reported as likely pathogenic for Immunodeficiency, common variable, 1

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)
NM_012092.4(ICOS):c.136_139del (p.Asp46fs)
NM_012092.4(ICOS):c.394+2T>C rs1559035937
NM_012092.4(ICOS):c.58+1G>A rs757598952

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