ClinVar Miner

List of variants reported as benign for immunodeficiency 104 by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051 0.28365
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_002185.5(IL7R):c.495C>T (p.His165=) rs2228141 0.13289
NM_002185.5(IL7R):c.1241C>T (p.Thr414Met) rs2229232 0.00456
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu) rs201216012

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