ClinVar Miner

List of variants reported as benign for MHC class II deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_000538.4(RFXAP):c.*550T>C rs9547679 0.84878
NM_001025603.2(RFX5):c.*283A>G rs1752387 0.78764
NM_000246.4(CIITA):c.*910T>C rs1139564 0.71323
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NM_001025603.2(RFX5):c.*888T>C rs7552906 0.62946
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_000538.4(RFXAP):c.*1253G>A rs10976 0.17219
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) rs2229320 0.16037
NM_001025603.2(RFX5):c.1226C>G (p.Pro409Arg) rs2233854 0.11448
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_001025603.2(RFX5):c.*244A>G rs2233857 0.03351
NM_000246.4(CIITA):c.225C>T (p.Cys75=) rs2229318 0.03257
NM_000246.4(CIITA):c.*158G>A rs45451491 0.02886
NM_000538.4(RFXAP):c.*1092A>G rs17054519 0.02297
NM_000246.4(CIITA):c.2472C>T (p.His824=) rs45621432 0.02015
NM_000538.4(RFXAP):c.*55A>G rs7321405 0.01975
NM_003721.4(RFXANK):c.*12C>T rs10413280 0.01716
NM_001025603.2(RFX5):c.64G>A (p.Ala22Thr) rs2233843 0.01686
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_000538.4(RFXAP):c.410T>C (p.Met137Thr) rs193240312 0.01125
NM_000246.4(CIITA):c.-46G>A rs115659359 0.00978
NM_000246.4(CIITA):c.3255G>A (p.Thr1085=) rs75521576 0.00964
NM_000538.4(RFXAP):c.*719C>T rs115679698 0.00957
NM_000246.4(CIITA):c.1973C>G (p.Ala658Gly) rs2229319 0.00945
NM_001025603.2(RFX5):c.900C>T (p.Leu300=) rs2233853 0.00879
NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln) rs2233851 0.00866
NM_000246.4(CIITA):c.*644C>G rs139802594 0.00727
NM_000246.4(CIITA):c.200-10T>C rs45474796 0.00588
NM_001025603.2(RFX5):c.*1084A>C rs116826799 0.00576
NM_000246.4(CIITA):c.1429C>A (p.Leu477Ile) rs150205851 0.00483
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_000538.4(RFXAP):c.*472C>T rs150569371 0.00380
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
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_001025603.2(RFX5):c.982C>A (p.Arg328=) rs78854744 0.00031
NM_000246.4(CIITA):c.2924A>G (p.Lys975Arg) rs140103491 0.00011
NM_001025603.2(RFX5):c.984G>A (p.Arg328=) rs374283593 0.00003
NM_000246.4(CIITA):c.*23-7G>C rs4780336
NM_000246.4(CIITA):c.494C>G (p.Thr165Ser) rs34648899
NM_000538.4(RFXAP):c.*33del rs398022347

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.