ClinVar Miner

List of variants reported as benign for MHC class II deficiency by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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.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.225C>T (p.Cys75=) rs2229318 0.03257
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.200-10T>C rs45474796 0.00588
NM_000246.4(CIITA):c.3108C>T (p.Ala1036=) rs150276623 0.00215
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_000246.4(CIITA):c.2682G>A (p.Ala894=) rs148091568 0.00064
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000246.4(CIITA):c.772+8C>T rs557455283 0.00012
NM_000246.4(CIITA):c.2924A>G (p.Lys975Arg) rs140103491 0.00011
NM_000246.4(CIITA):c.1486C>T (p.Leu496Phe) rs756970534 0.00008
NM_000246.4(CIITA):c.3233+8_3233+9del rs774399663
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.