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

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter)	rs1556331272
NM_000206.3(IL2RG):c.115+1G>T	rs2147751762
NM_000206.3(IL2RG):c.115+2T>C	rs2147751760
NM_000206.3(IL2RG):c.116-1G>A	rs2147751144
NM_000206.3(IL2RG):c.126del (p.Thr43fs)
NM_000206.3(IL2RG):c.27_51del (p.Ser10fs)	rs2147751892
NM_000206.3(IL2RG):c.34_35del (p.Leu12fs)
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)	rs1057517747
NM_000206.3(IL2RG):c.52del (p.Leu18fs)	rs2147751877
NM_000206.3(IL2RG):c.79dup (p.Ile27fs)
NM_000206.3(IL2RG):c.87del (p.Asn31fs)	rs1602289943

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