ClinVar Miner

List of variants reported as benign for X-linked severe combined immunodeficiency

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.858G>A (p.Thr286=) rs148001866 0.00189
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000206.3(IL2RG):c.282G>A (p.Ser94=) rs142807857 0.00039
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359 0.00023
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met) rs767758983 0.00014
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=) rs376679881 0.00011
NM_000206.3(IL2RG):c.912C>T (p.His304=) rs145282692 0.00010
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met) rs375921454 0.00009
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp) rs200239526 0.00007
NM_000206.3(IL2RG):c.92A>G (p.Asn31Ser) rs749977756 0.00007
NM_000206.3(IL2RG):c.659C>T (p.Thr220Met) rs374102717 0.00006
NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu) rs765748584 0.00006
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) rs778229878 0.00005
NM_000206.3(IL2RG):c.786C>T (p.Ala262=) rs374370835 0.00005
NM_000206.3(IL2RG):c.269+17G>A rs746420476 0.00004
NM_000206.3(IL2RG):c.653G>A (p.Arg218His) rs763721645 0.00004
NM_000206.3(IL2RG):c.758-16T>C rs748876814 0.00004
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu) rs775704953 0.00003
NM_000206.3(IL2RG):c.396C>T (p.Leu132=) rs201840981 0.00003
NM_000206.3(IL2RG):c.511G>C (p.Glu171Gln) rs763359860 0.00003
NM_000206.3(IL2RG):c.69G>A (p.Leu23=) rs748252421 0.00003
NM_000206.3(IL2RG):c.708T>C (p.His236=) rs750844357 0.00003
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347 0.00002
NM_000206.3(IL2RG):c.407G>A (p.Arg136Gln) rs753502444 0.00002
NM_000206.3(IL2RG):c.455-8A>G rs781649645 0.00002
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg) rs758693125 0.00002
NM_000206.3(IL2RG):c.75G>A (p.Thr25=) rs754951792 0.00002
NM_000206.3(IL2RG):c.87G>A (p.Thr29=) rs779772745 0.00002
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val) rs370007902 0.00002
NM_000206.3(IL2RG):c.963G>A (p.Leu321=) rs181901993 0.00002
NM_000206.3(IL2RG):c.975C>T (p.Tyr325=) rs755664130 0.00002
NM_000206.3(IL2RG):c.159C>T (p.Ser53=) rs762084352 0.00001
NM_000206.3(IL2RG):c.348G>T (p.Gln116His) rs778547446 0.00001
NM_000206.3(IL2RG):c.567C>T (p.Tyr189=) rs773342053 0.00001
NM_000206.3(IL2RG):c.600A>C (p.Gln200His) rs767379303 0.00001
NM_000206.3(IL2RG):c.798T>C (p.Ser266=) rs764914063 0.00001
NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn) rs779190567 0.00001
NM_000206.3(IL2RG):c.*290T>C rs763003140
NM_000206.3(IL2RG):c.594+16C>T
NM_000206.3(IL2RG):c.758-14del rs1432586413
NM_000206.3(IL2RG):c.924+12G>A
NM_000206.3(IL2RG):c.92A>T (p.Asn31Ile)

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