ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.11:g.(?_204730944)_(204824322_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_012092.4(ICOS):c.17G>A (p.Trp6Ter)
NM_012092.4(ICOS):c.181del (p.Ile61fs) rs1690066397
NM_012092.4(ICOS):c.189C>A (p.Cys63Ter) rs537195517
NM_012092.4(ICOS):c.291C>A (p.Tyr97Ter)
NM_012092.4(ICOS):c.294del (p.Leu99fs)
NM_012092.4(ICOS):c.318T>G (p.Tyr106Ter) rs2105754294
NM_012092.4(ICOS):c.357del (p.Phe119fs)
NM_012092.4(ICOS):c.59-594_501+93del
NM_012092.4(ICOS):c.61G>T (p.Glu21Ter) rs1015881666
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650

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