ClinVar Miner

List of variants reported as likely pathogenic for X-linked severe combined immunodeficiency by Invitae

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Total variants: 20
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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.116-1G>A rs2147751144
NM_000206.3(IL2RG):c.116-2A>G rs2147751146
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.395T>A (p.Leu132His) rs2092261278
NM_000206.3(IL2RG):c.437T>C (p.Leu146Pro)
NM_000206.3(IL2RG):c.467C>T (p.Ala156Val) rs1057521062
NM_000206.3(IL2RG):c.485T>G (p.Leu162Arg) rs2092260648
NM_000206.3(IL2RG):c.515T>A (p.Leu172Gln)
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.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.692G>A (p.Cys231Tyr)
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000206.3(IL2RG):c.854+2T>C rs2147747293

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