List of variants in gene ORAI1 reported as likely pathogenic for combined immunodeficiency

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000012.12:g.121641318T>C	rs782753385	0.00004
NC_000012.12:g.121641283del	rs1594212582
NC_000012.12:g.121641350C>T	rs2136853046
NM_032790.4(ORAI1):c.391G>A (p.Val131Met)	rs2503543085
NM_032790.4(ORAI1):c.505dup (p.His169fs)	rs2503543510
NM_032790.4(ORAI1):c.750dup (p.Ile251Tyrfs)	rs1265366427
NM_032790.4(ORAI1):c.802C>T (p.Arg268Ter)	rs1555324160

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.