ClinVar Miner

List of variants in gene ICOS reported as pathogenic for common variable immunodeficiency

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
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

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