List of variants in gene IL7R reported as pathogenic for Severe combined immunodeficiency disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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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.662G>T (p.Ser221Ile)	rs587778405	0.00001
NM_002185.5(IL7R):c.361dup (p.Ile121fs)	rs869312857
NM_002185.5(IL7R):c.707-2A>G	rs1561424886

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