ClinVar Miner

List of variants in gene combination IL2RG, LOC126863274 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000206.2(IL2RG):c.-66T>C rs960999937 0.00011
NM_000206.3(IL2RG):c.87G>A (p.Thr29=) rs779772745 0.00002
NC_000023.11:g.71111644G>A rs1396169268
NC_000023.11:g.71111644G>T
NM_000206.3(IL2RG):c.115+13G>A
NM_000206.3(IL2RG):c.17T>C (p.Leu6Ser) rs2092264087
NM_000206.3(IL2RG):c.31C>T (p.Leu11Phe)
NM_000206.3(IL2RG):c.32T>C (p.Leu11Pro) rs1204738180
NM_000206.3(IL2RG):c.62T>C (p.Val21Ala) rs376612175
NM_000206.3(IL2RG):c.75_77del (p.Thr26del) rs758742212
NM_000206.3(IL2RG):c.80T>C (p.Ile27Thr)
NM_000206.3(IL2RG):c.96G>T (p.Gly32=)
NM_000206.3(IL2RG):c.97A>G (p.Asn33Asp)

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