ClinVar Miner

List of variants reported as pathogenic for immune system disorder by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_001242.5(CD27):c.319C>T (p.Arg107Cys) rs371761387 0.00005
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) rs150269540 0.00003
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NC_000007.14:g.99369754_99378887del
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) rs1590715754
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_001079.4(ZAP70):c.283C>T (p.Pro95Ser) rs1573262398
NM_001242.5(CD27):c.250dup (p.Cys84fs) rs1592117677
NM_001972.4(ELANE):c.597+5G>A rs879253882
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) rs587776806
NM_003998.4(NFKB1):c.1423del (p.Ala475fs) rs1578809101
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) rs1578771120
NM_003998.4(NFKB1):c.293T>A (p.Val98Asp) rs1578771197
NM_003998.4(NFKB1):c.830dup (p.Lys278fs) rs1578790573
NM_003998.4(NFKB1):c.843C>G (p.Ile281Met) rs1578793298
NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs) rs760191638
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_020458.4(TTC7A):c.1802+3G>C rs1572961263
Single allele

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.