List of variants in gene IL7R studied 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
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002185.5(IL7R):c.539A>C (p.His180Pro)	rs193922642	0.00005
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.662G>T (p.Ser221Ile)	rs587778405	0.00001
NM_002185.5(IL7R):c.*1902del	rs33994244
NM_002185.5(IL7R):c.*266dup	rs202167692
NM_002185.5(IL7R):c.*334AAAG[4]	rs397691511
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)	rs193922640
NM_002185.5(IL7R):c.361dup (p.Ile121fs)	rs869312857
NM_002185.5(IL7R):c.437_438del (p.Phe146fs)	rs1561423197
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter)	rs193922643
NM_002185.5(IL7R):c.644G>T (p.Gly215Val)	rs193922645
NM_002185.5(IL7R):c.707-2A>G	rs1561424886
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
NM_002185.5(IL7R):c.83-18A>G	rs193922646

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