List of variants in gene IKZF1 reported as pathogenic for agammaglobulinemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006060.5(IKZF1):c.161-8388_589+2308del
NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser)	rs374333820
NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln)	rs770551610
NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu)	rs770551610
NM_006060.6(IKZF1):c.500A>G (p.His167Arg)	rs869312884
NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter)	rs530073586
NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln)	rs869312885
NM_006060.6(IKZF1):c.584A>G (p.His195Arg)	rs1131690788
NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys)	rs869312883

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