ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.514C>A (p.Leu172Met) rs141707292 0.00003
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter) rs2092262517
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.3(IL2RG):c.235_236delinsT (p.Glu79fs)
NM_000206.3(IL2RG):c.269+1G>T rs2092262300
NM_000206.3(IL2RG):c.270-1G>T rs193922346
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.3(IL2RG):c.340G>A (p.Gly114Ser)
NM_000206.3(IL2RG):c.340G>T (p.Gly114Cys) rs2147750359
NM_000206.3(IL2RG):c.344G>A (p.Cys115Tyr) rs1556330755
NM_000206.3(IL2RG):c.344G>T (p.Cys115Phe) rs1556330755
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs) rs2092261347
NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys) rs2092261313
NM_000206.3(IL2RG):c.395T>A (p.Leu132His) rs2092261278
NM_000206.3(IL2RG):c.437T>C (p.Leu146Pro)
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter) rs1569479994
NM_000206.3(IL2RG):c.467C>T (p.Ala156Val) rs1057521062
NM_000206.3(IL2RG):c.480_481del (p.Leu162fs)
NM_000206.3(IL2RG):c.481del (p.Thr161fs)
NM_000206.3(IL2RG):c.485T>G (p.Leu162Arg) rs2092260648
NM_000206.3(IL2RG):c.489_490del (p.His163fs)
NM_000206.3(IL2RG):c.515T>A (p.Leu172Gln)
NM_000206.3(IL2RG):c.537_538del (p.Asn180fs)
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr) rs1064794027
NM_000206.3(IL2RG):c.545G>C (p.Cys182Ser) rs1064794027
NM_000206.3(IL2RG):c.594+5G>A rs2147749578
NM_000206.3(IL2RG):c.594+5G>T rs2147749578
NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser) rs193922349
NM_000206.3(IL2RG):c.671G>C (p.Arg224Pro)
NM_000206.3(IL2RG):c.675C>A (p.Ser225Arg) rs1569479913
NM_000206.3(IL2RG):c.675C>G (p.Ser225Arg) rs1569479913
NM_000206.3(IL2RG):c.681del (p.Phe227fs)
NM_000206.3(IL2RG):c.692G>A (p.Cys231Tyr)
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000206.3(IL2RG):c.695G>T (p.Gly232Val) rs2147748189
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.3(IL2RG):c.715G>T (p.Glu239Ter)
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.854+2T>C rs2147747293
NM_000206.3(IL2RG):c.924G>A (p.Ser308=) rs2092255386
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347

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