ClinVar Miner

List of variants in gene IL2RG, LOC126863274 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359 0.00023
NM_000206.2(IL2RG):c.-66T>C rs960999937 0.00011
NM_000206.3(IL2RG):c.51C>T (p.Pro17=) rs773483114 0.00009
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met) rs375921454 0.00009
NM_000206.3(IL2RG):c.92A>G (p.Asn31Ser) rs749977756 0.00007
NM_000206.3(IL2RG):c.74C>T (p.Thr25Met) rs751455361 0.00005
NM_000206.3(IL2RG):c.69G>A (p.Leu23=) rs748252421 0.00003
NM_000206.3(IL2RG):c.116-5T>G rs754256514 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.37T>C (p.Phe13Leu) rs1015272346 0.00001
NC_000023.11:g.71111644G>A rs1396169268
NC_000023.11:g.71111644G>T
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter) rs1556331272
NM_000206.3(IL2RG):c.115+10C>T
NM_000206.3(IL2RG):c.115+13G>A
NM_000206.3(IL2RG):c.115+1G>T rs2147751762
NM_000206.3(IL2RG):c.115+2T>C rs2147751760
NM_000206.3(IL2RG):c.116-14T>A
NM_000206.3(IL2RG):c.116-1G>A rs2147751144
NM_000206.3(IL2RG):c.116-2A>G rs2147751146
NM_000206.3(IL2RG):c.116-8C>T
NM_000206.3(IL2RG):c.124C>T (p.Leu42=)
NM_000206.3(IL2RG):c.126del (p.Thr43fs)
NM_000206.3(IL2RG):c.15A>G (p.Ser5=)
NM_000206.3(IL2RG):c.15A>T (p.Ser5=) rs2147751939
NM_000206.3(IL2RG):c.17T>C (p.Leu6Ser) rs2092264087
NM_000206.3(IL2RG):c.27_51del (p.Ser10fs) rs2147751892
NM_000206.3(IL2RG):c.30C>T (p.Ser10=)
NM_000206.3(IL2RG):c.31C>T (p.Leu11Phe)
NM_000206.3(IL2RG):c.32T>C (p.Leu11Pro) rs1204738180
NM_000206.3(IL2RG):c.34_35del (p.Leu12fs)
NM_000206.3(IL2RG):c.41T>C (p.Leu14Pro)
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter) rs1057517747
NM_000206.3(IL2RG):c.47T>C (p.Leu16Pro) rs879253742
NM_000206.3(IL2RG):c.52del (p.Leu18fs) rs2147751877
NM_000206.3(IL2RG):c.60A>C (p.Gly20=) rs772095231
NM_000206.3(IL2RG):c.60A>G (p.Gly20=)
NM_000206.3(IL2RG):c.62T>C (p.Val21Ala) rs376612175
NM_000206.3(IL2RG):c.72C>T (p.Asn24=)
NM_000206.3(IL2RG):c.74del (p.Thr25fs) rs2147751859
NM_000206.3(IL2RG):c.75_77del (p.Thr26del) rs758742212
NM_000206.3(IL2RG):c.79dup (p.Ile27fs)
NM_000206.3(IL2RG):c.80T>C (p.Ile27Thr)
NM_000206.3(IL2RG):c.87del (p.Asn31fs) rs1602289943
NM_000206.3(IL2RG):c.92A>T (p.Asn31Ile)
NM_000206.3(IL2RG):c.96G>T (p.Gly32=)
NM_000206.3(IL2RG):c.97A>G (p.Asn33Asp)

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