ClinVar Miner

List of variants studied for pancytopenia due to IKZF1 mutations

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_006060.6(IKZF1):c.161-8198A>G rs10899750 0.76615
NM_006060.6(IKZF1):c.1002C>A (p.Pro334=) rs61731355 0.16192
NM_006060.6(IKZF1):c.161-8328C>A rs76112582 0.03410
NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu) rs752909152 0.00007
NM_006060.6(IKZF1):c.1047G>C (p.Gln349His) rs937630364 0.00001
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_006060.5(IKZF1):c.161-8388_589+2308del
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
NM_006060.6(IKZF1):c.1288G>C (p.Glu430Gln)
NM_006060.6(IKZF1):c.1346T>G (p.Leu449Arg)
NM_006060.6(IKZF1):c.161-15019A>G rs1805227150
NM_006060.6(IKZF1):c.369G>A (p.Gly123=) rs2153470067
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.499C>T (p.His167Tyr)
NM_006060.6(IKZF1):c.500A>G (p.His167Arg) rs869312884
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter) rs530073586
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495
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.589+1G>A
NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys) rs869312883
NM_006060.6(IKZF1):c.715+167C>T rs549144523
NM_006060.6(IKZF1):c.825G>A (p.Lys275=) rs1064796324
NM_006060.6(IKZF1):c.863T>G (p.Leu288Arg)
NM_006060.6(IKZF1):c.880G>C (p.Asp294His)

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