List of variants in gene IL7R reported as likely pathogenic for T-B+ severe combined immunodeficiency

Minimum submission review status:		Collection method:
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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_002185.5(IL7R):c.353G>A (p.Cys118Tyr)	rs193922641	0.00004
NM_002185.5(IL7R):c.2T>G (p.Met1Arg)	rs200076125	0.00003
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)	rs141698985	0.00001
NM_002185.5(IL7R):c.135G>C (p.Gln45His)	rs200464578
NM_002185.5(IL7R):c.235G>T (p.Glu79Ter)	rs1354581284
NM_002185.5(IL7R):c.355A>T (p.Lys119Ter)	rs1448018291
NM_002185.5(IL7R):c.394C>T (p.Pro132Ser)	rs104893894
NM_002185.5(IL7R):c.41T>C (p.Leu14Ser)	rs1759661333
NM_002185.5(IL7R):c.644G>T (p.Gly215Val)	rs193922645
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)	rs766555082
NM_002185.5(IL7R):c.[160T>C;245G>T]

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