ClinVar Miner

List of variants reported as uncertain significance for MHC class II deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304 0.00216
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359 0.00156
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00072
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) rs149253747 0.00049
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_003721.4(RFXANK):c.37A>T (p.Thr13Ser) rs373342097 0.00004
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 0.00003
NM_000246.4(CIITA):c.2817-8C>G rs775728920 0.00002
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe) rs1234424650 0.00001
NM_001025603.2(RFX5):c.1759A>T (p.Thr587Ser) rs769690666 0.00001
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537

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.