ClinVar Miner

List of variants reported as pathogenic for combined immunodeficiency due to CRAC channel dysfunction

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032790.4(ORAI1):c.581T>C (p.Leu194Pro) rs782753385 0.00004
NC_000011.10:g.(?_3856251)_(4091818_?)del
NC_000011.10:g.(?_4059271)_(4059406_?)del
NC_000011.9:g.(?_3988762)_(4113028_?)del
NC_000011.9:g.(?_4076736)_(4076887_?)del
NC_000012.11:g.(?_122064648)_(122064976_?)del
NM_001382567.1(STIM1):c.1189del (p.Ala397fs) rs2133224258
NM_001382567.1(STIM1):c.1276C>T (p.Arg426Cys) rs1057519505
NM_001382567.1(STIM1):c.1285C>T (p.Arg429Cys) rs397514671
NM_001382567.1(STIM1):c.1452del (p.Ile484fs) rs1565171115
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs) rs2135736277
NM_001382567.1(STIM1):c.221T>C (p.Leu74Pro) rs1057519506
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) rs397514677
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) rs527236030
NM_001382567.1(STIM1):c.381dup (p.Glu128fs) rs397515357
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs) rs1590688717
NM_001382567.1(STIM1):c.869_887del (p.Ile290fs) rs751733169
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp) rs483352867
NM_001382567.1(STIM1):c.970-1G>A rs397515390
NM_032790.4(ORAI1):c.141_142insCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Ser48Profs) rs1555322558
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)
NM_032790.4(ORAI1):c.261dup (p.Ala88Serfs) rs878853261
NM_032790.4(ORAI1):c.271C>T (p.Arg91Trp) rs118203993
NM_032790.4(ORAI1):c.308C>A (p.Ala103Glu) rs786205890
NM_032790.4(ORAI1):c.319G>A (p.Val107Met) rs2136852410

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.