ClinVar Miner

List of variants studied for T-B+ severe combined immunodeficiency by Natera, Inc.

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
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.1002G>A (p.Glu334=) rs376679881 0.00011
NM_000206.3(IL2RG):c.912C>T (p.His304=) rs145282692 0.00010
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr) rs140216601 0.00009
NM_000206.3(IL2RG):c.459C>T (p.Ile153=) rs150560580 0.00009
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.754A>G (p.Lys252Glu) rs765748584 0.00006
NM_000206.3(IL2RG):c.130A>G (p.Thr44Ala) rs7885041 0.00005
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) rs778229878 0.00005
NM_000206.3(IL2RG):c.761A>T (p.Asn254Ile) rs368726465 0.00005
NM_000206.3(IL2RG):c.786C>T (p.Ala262=) rs374370835 0.00005
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala) rs374270413 0.00004
NM_000206.3(IL2RG):c.607G>A (p.Asp203Asn) rs987981899 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.708T>C (p.His236=) rs750844357 0.00003
NM_000206.3(IL2RG):c.821T>C (p.Ile274Thr) rs370677485 0.00003
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val) rs767383120 0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347 0.00002
NM_000206.3(IL2RG):c.226A>G (p.Ser76Gly) rs745652226 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.311A>T (p.His104Leu) rs770804846 0.00001
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp) rs758080286 0.00001
NM_000206.3(IL2RG):c.556T>G (p.Leu186Val) rs1482339326 0.00001
NM_000206.3(IL2RG):c.798T>C (p.Ser266=) rs764914063 0.00001
NM_000206.3(IL2RG):c.816G>A (p.Leu272=) rs1272158575 0.00001
NM_000206.3(IL2RG):c.562C>T (p.Gln188Ter) rs1556330552
NM_000206.3(IL2RG):c.597A>C (p.Glu199Asp) rs1602288813
NM_000206.3(IL2RG):c.654C>T (p.Arg218=) rs1318183247
NM_000206.3(IL2RG):c.685C>A (p.Pro229Thr) rs1602288776

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