List of variants in gene combination IL2RG, LOC126863274 reported as likely pathogenic for T-B+ severe combined immunodeficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000206.3(IL2RG):c.116-1G>A	rs2147751144
NM_000206.3(IL2RG):c.116-2A>G	rs2147751146
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.74del (p.Thr25fs)	rs2147751859

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