ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by OMIM

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
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_003060.4(SLC22A5):c.-207= rs2631367 0.41743
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_004387.4(NKX2-5):c.707C>A (p.Pro236His) rs397515399 0.00001
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_032977.4(CASP10):c.1216A>C (p.Ile406Leu) rs80358239

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.