ClinVar Miner

List of variants in gene IKZF1 reported as likely pathogenic for common variable immunodeficiency

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn) rs1245618829 0.00001
NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) rs778820674 0.00001
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
NM_006060.6(IKZF1):c.499C>T (p.His167Tyr)
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495

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