ClinVar Miner

List of variants in gene IL2RG reported as uncertain significance for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000206.2(IL2RG):c.-105C>T rs1396169268
NM_000206.2(IL2RG):c.1094T>C (p.Leu365Pro)
NM_000206.2(IL2RG):c.215G>T (p.Cys72Phe) rs1556330960
NM_000206.2(IL2RG):c.406C>T (p.Arg136Trp) rs758080286
NM_000206.2(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal)
NM_000206.2(IL2RG):c.433A>G (p.Met145Val)
NM_000206.2(IL2RG):c.461C>A (p.Pro154His)
NM_000206.2(IL2RG):c.580G>T (p.Asp194Tyr) rs1569479981
NM_000206.2(IL2RG):c.597A>C (p.Glu199Asp)
NM_000206.2(IL2RG):c.675C>G (p.Ser225Arg) rs1569479913
NM_000206.2(IL2RG):c.821T>C (p.Ile274Thr) rs370677485

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