ClinVar Miner

List of variants reported as benign for MHC class I deficiency

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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.*30= rs241449 0.74246
NM_001290043.2(TAP2):c.1993= (p.Thr665=) rs241447 0.74244
NM_001290043.2(TAP2):c.2059= (p.Ter687=) rs241448 0.73216
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_001290043.2(TAP2):c.1636-10T>C rs241436 0.42321
NC_000006.12:g.32854082C>A rs2071480 0.41945
NM_001290043.2(TAP2):c.494-42G>C rs2071465 0.39868
NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln) rs241448 0.26784
NM_001290043.2(TAP2):c.608+7G>A rs2071466 0.26274
NM_001290043.2(TAP2):c.1993A>G (p.Thr665Ala) rs241447 0.25756
NM_001290043.2(TAP2):c.*30G>T rs241449 0.25754
NM_001290043.2(TAP2):c.1812A>G (p.Gly604=) rs241441 0.25585
NM_001290043.2(TAP2):c.1932+9C>T rs241442 0.25438
NM_001290043.2(TAP2):c.1158G>T (p.Gly386=) rs2228397 0.24300
NM_003190.5(TAPBP):c.-25T>A rs2239840 0.22922
NM_003190.5(TAPBP):c.-24C>A rs2239841 0.22909
NM_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile) rs1800454 0.14502
NM_001290043.2(TAP2):c.1693G>A (p.Ala565Thr) rs2228396 0.09496
NM_001290043.2(TAP2):c.1308C>T (p.Asn436=) rs1042116 0.08275
NM_000593.6(TAP1):c.-34G>A rs2071536 0.08168
NM_001290043.2(TAP2):c.1800A>C (p.Val600=) rs2229527 0.06729
NM_000593.6(TAP1):c.1372G>T (p.Val458Leu) rs41550019 0.05998
NM_000593.6(TAP1):c.1943G>A (p.Arg648Gln) rs1057149 0.05992
NM_001290043.2(TAP2):c.1951C>T (p.Arg651Cys) rs4148876 0.05694
NM_001290043.2(TAP2):c.739+12A>T rs28724898 0.05022
NM_001290043.2(TAP2):c.608+8G>A rs2071467 0.03652
NM_003190.5(TAPBP):c.972G>A (p.Gly324=) rs61739590 0.03495
NM_003190.5(TAPBP):c.1239C>T (p.Ser413=) rs34132052 0.03488
NM_001290043.2(TAP2):c.1932+10G>A rs41316548 0.03199
NM_000593.6(TAP1):c.423T>C (p.Val141=) rs55702652 0.02994
NM_000593.6(TAP1):c.762C>T (p.Gly254=) rs41549617 0.02937
NM_000593.6(TAP1):c.1983G>A (p.Pro661=) rs41551515 0.02846
NM_000593.6(TAP1):c.1109C>T (p.Ala370Val) rs2127679 0.02831
NM_000593.6(TAP1):c.1552G>A (p.Val518Ile) rs41561219 0.02830
NM_000593.6(TAP1):c.598+17G>T rs55967815 0.02750
NM_001290043.2(TAP2):c.1161G>A (p.Val387=) rs2856992 0.02108
NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr) rs111303994 0.01475
NM_001290043.2(TAP2):c.938G>A (p.Arg313His) rs140654840 0.01474
NM_001290043.2(TAP2):c.494-11G>T rs56115039 0.01338
NM_003190.5(TAPBP):c.1252C>T (p.Leu418=) rs144706539 0.01237
NM_001290043.2(TAP2):c.1144-5T>C rs148353836 0.01133
NM_001290043.2(TAP2):c.1398G>A (p.Gly466=) rs137982419 0.01133
NM_001290043.2(TAP2):c.1399G>A (p.Val467Ile) rs150253319 0.01133
NM_001290043.2(TAP2):c.1826C>T (p.Ala609Val) rs74770812 0.01035
NM_000593.6(TAP1):c.857C>T (p.Ser286Phe) rs2228111 0.00961
NM_001290043.2(TAP2):c.1374G>A (p.Thr458=) rs149495208 0.00902
NM_001290043.2(TAP2):c.658C>A (p.Arg220=) rs142794316 0.00886
NM_003190.5(TAPBP):c.1301-14A>G rs73741554 0.00881
NM_000593.6(TAP1):c.49G>C (p.Gly17Arg) rs57640466 0.00819
NM_001290043.2(TAP2):c.44T>C (p.Val15Ala) rs55827768 0.00817
NM_000593.6(TAP1):c.730G>T (p.Val244Leu) rs36229525 0.00785
NM_003190.5(TAPBP):c.1210+20C>T rs41266733 0.00718
NM_000593.6(TAP1):c.-20G>A rs113585939 0.00670
NM_001290043.2(TAP2):c.4C>T (p.Arg2Trp) rs61736918 0.00447
NM_003190.5(TAPBP):c.174G>T (p.Pro58=) rs45501592 0.00377
NM_001290043.2(TAP2):c.1635+18A>G rs185280611 0.00348
NM_001290043.2(TAP2):c.1273-15A>G rs115303673 0.00274
NM_001290043.2(TAP2):c.1729A>G (p.Met577Val) rs2228391 0.00271
NM_001290043.2(TAP2):c.1755A>G (p.Ala585=) rs79098150 0.00247
NM_003190.5(TAPBP):c.573C>T (p.Ala191=) rs34349100 0.00226
NM_000593.6(TAP1):c.438G>A (p.Ala146=) rs78410191 0.00190
NM_001290043.2(TAP2):c.162G>A (p.Lys54=) rs56064400 0.00182
NM_000593.6(TAP1):c.2182C>A (p.Gln728Lys) rs74897484 0.00175
NM_001290043.2(TAP2):c.1878G>A (p.Arg626=) rs141926520 0.00149
NM_000593.6(TAP1):c.2041-14A>C rs140017767 0.00145
NM_000593.6(TAP1):c.1461C>T (p.Arg487=) rs146075993 0.00102
NM_000593.6(TAP1):c.465C>T (p.His155=) rs56016563 0.00086
NM_003190.5(TAPBP):c.103G>A (p.Gly35Arg) rs117394742 0.00080
NM_003190.5(TAPBP):c.1284G>A (p.Lys428=) rs148137345 0.00067
NM_000593.6(TAP1):c.588C>G (p.Leu196=) rs2228109 0.00065
NM_003190.5(TAPBP):c.37+13C>G rs201502591 0.00065
NM_001290043.2(TAP2):c.1920G>A (p.Gln640=) rs145894663 0.00052
NM_003190.5(TAPBP):c.681G>A (p.Gln227=) rs143453259 0.00036
NM_001290043.2(TAP2):c.336C>T (p.Ser112=) rs55765602 0.00027
NM_000593.6(TAP1):c.437C>T (p.Ala146Val) rs144830209 0.00010
NM_001290043.2(TAP2):c.918G>A (p.Ala306=) rs556799828 0.00002
NM_000593.6(TAP1):c.2041-15G>A rs538476075 0.00001
NM_003190.5(TAPBP):c.333C>G (p.Pro111=) rs561857093 0.00001
NM_000593.6(TAP1):c.1255G>T (p.Gly419Cys) rs2228110
NM_001290043.2(TAP2):c.1144-16_1144-13del rs200922606
NM_001290043.2(TAP2):c.1144-6T>A rs9461814
NM_001290043.2(TAP2):c.1144-6_1144-5delinsAC rs386699797
NM_001290043.2(TAP2):c.1398_1399delinsAA (p.Val467Ile) rs369909014
NM_001290043.2(TAP2):c.1933-6del rs550778027
NM_001290043.2(TAP2):c.222C>A (p.Pro74=) rs2229526
NM_003190.5(TAPBP):c.1301-5dup

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