ClinVar Miner

List of variants in gene CIITA reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_000246.4(CIITA):c.*910T>C rs1139564 0.71323
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) rs2229320 0.16037
NM_000246.4(CIITA):c.3171C>T (p.Cys1057=) rs2229322 0.09639
NM_000246.4(CIITA):c.2331G>T (p.Ser777=) rs34685848 0.06730
NM_000246.4(CIITA):c.133C>G (p.Leu45Val) rs2229317 0.06359
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) rs13336804 0.06290
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) rs2229321 0.06266
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) rs13330686 0.06264
NM_000246.4(CIITA):c.*690C>T rs11074940 0.03881
NM_000246.4(CIITA):c.*735G>A rs34538398 0.03616
NM_000246.4(CIITA):c.*911G>A rs45466393 0.03491
NM_000246.4(CIITA):c.225C>T (p.Cys75=) rs2229318 0.03257
NM_000246.4(CIITA):c.*158G>A rs45451491 0.02886
NM_000246.4(CIITA):c.2472C>T (p.His824=) rs45621432 0.02015
NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp) rs78108426 0.01496
NM_000246.4(CIITA):c.2286C>A (p.Ile762=) rs35976871 0.01268
NM_000246.4(CIITA):c.3255G>A (p.Thr1085=) rs75521576 0.00964
NM_000246.4(CIITA):c.1973C>G (p.Ala658Gly) rs2229319 0.00945
NM_000246.4(CIITA):c.*644C>G rs139802594 0.00727
NM_000246.4(CIITA):c.200-10T>C rs45474796 0.00588
NM_000246.4(CIITA):c.1429C>A (p.Leu477Ile) rs150205851 0.00483
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_000246.4(CIITA):c.2682G>A (p.Ala894=) rs148091568 0.00064
NM_000246.4(CIITA):c.*1126T>G rs145729250 0.00046
NM_000246.4(CIITA):c.2924A>G (p.Lys975Arg) rs140103491 0.00011
NM_000246.4(CIITA):c.*23-7G>C rs4780336
NM_000246.4(CIITA):c.494C>G (p.Thr165Ser) rs34648899

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.