ClinVar Miner

List of variants studied for Histiocytic medullary reticulosis by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.*3184G>A rs1056403 0.48229
NM_000536.4(RAG2):c.*328A>G rs10836573 0.48132
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_001033855.3(DCLRE1C):c.780+10C>T rs35927251 0.17583
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973 0.12928
NM_138787.4(IFTAP):c.-24+3619A>G rs73455545 0.10925
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_000448.3(RAG1):c.*2246T>C rs4151045 0.07666
NM_000448.3(RAG1):c.2880A>G (p.Ala960=) rs1980131 0.07643
NM_000448.3(RAG1):c.-65A>G rs872053 0.07575
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
NM_000536.4(RAG2):c.*183C>A rs12280564 0.03300
NM_000536.4(RAG2):c.*144G>T rs12280515 0.03006
NM_000448.2(RAG1):c.*3331A>G rs2673017 0.02522
NM_000448.3(RAG1):c.*2530G>T rs4151047 0.02426
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_001033855.3(DCLRE1C):c.*1287T>C rs41300698 0.02114
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949 0.01926
NM_000448.3(RAG1):c.303G>A (p.Ala101=) rs4151025 0.01561
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NM_000448.3(RAG1):c.*589G>A rs4151038 0.01403
NM_000448.3(RAG1):c.*398G>A rs4151036 0.01396
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_001033855.3(DCLRE1C):c.*975G>A rs116007944 0.01257
NM_000448.3(RAG1):c.*1978C>T rs4151044 0.01228
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001033855.3(DCLRE1C):c.*1125T>C rs41300692 0.01017
NM_001033855.3(DCLRE1C):c.*848A>G rs41300684 0.01016
NM_001033855.3(DCLRE1C):c.*1339G>C rs41300700 0.01003
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 0.00869
NM_001033855.3(DCLRE1C):c.*752T>C rs41300682 0.00758
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn) rs4151034 0.00364
NM_000448.3(RAG1):c.2751G>A (p.Gln917=) rs150721661 0.00334
NM_000536.4(RAG2):c.*227T>C rs113343318 0.00331
NM_001033855.3(DCLRE1C):c.*551G>A rs373280996 0.00327
NM_000448.3(RAG1):c.*3156A>G rs183729240 0.00313
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_001033855.3(DCLRE1C):c.*792A>C rs191042274 0.00283
NM_000448.3(RAG1):c.*1101G>A rs145963034 0.00261
NM_000448.3(RAG1):c.-114G>A rs872052 0.00259
NM_001033855.3(DCLRE1C):c.*1394C>T rs75676336 0.00248
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_000448.3(RAG1):c.2571C>T (p.Ala857=) rs141560248 0.00227
NM_001033855.3(DCLRE1C):c.*555A>G rs568873828 0.00189
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val) rs139113046 0.00148
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_000448.3(RAG1):c.*1366A>G rs371127461 0.00130
NM_000448.3(RAG1):c.*2599A>C rs375155856 0.00130
NM_000448.3(RAG1):c.*2654A>G rs369536926 0.00130
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys) rs34841221 0.00130
NM_000448.3(RAG1):c.*238G>A rs4151035 0.00105
NM_000448.3(RAG1):c.*420T>C rs4151037 0.00105
NM_001033855.3(DCLRE1C):c.*179G>A rs188107018 0.00097
NM_000448.3(RAG1):c.*370G>T rs569692485 0.00096
NM_000448.3(RAG1):c.*739C>T rs4151039 0.00095
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_000448.3(RAG1):c.*1130A>G rs554469239 0.00078
NM_000536.4(RAG2):c.*52T>A rs546979744 0.00076
NM_001033855.3(DCLRE1C):c.*1186T>G rs558392829 0.00073
NM_001033855.3(DCLRE1C):c.*1215C>T rs532698576 0.00072
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001033855.3(DCLRE1C):c.*1280C>T rs554974498 0.00070
NM_000448.3(RAG1):c.*834dup rs745747958 0.00063
NM_000448.3(RAG1):c.-15+12A>G rs190968516 0.00061
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926 0.00058
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001033855.3(DCLRE1C):c.*616T>C rs566371862 0.00056
NM_001033855.3(DCLRE1C):c.*759T>C rs550717857 0.00054
NM_001033855.3(DCLRE1C):c.*429C>T rs557496672 0.00053
NM_000448.3(RAG1):c.*1307C>T rs572674156 0.00042
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_001033855.3(DCLRE1C):c.*220del rs886046848 0.00032
NM_000448.3(RAG1):c.*1124C>T rs756654880 0.00031
NM_001033855.3(DCLRE1C):c.*391C>T rs189798814 0.00030
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817 0.00029
NM_001033855.3(DCLRE1C):c.*1525A>T rs552656235 0.00024
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr) rs151077440 0.00021
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn) rs150790148 0.00019
NM_000448.3(RAG1):c.653G>A (p.Arg218His) rs202178215 0.00019
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_001033855.3(DCLRE1C):c.*12G>A rs369509998 0.00019
NM_001033855.3(DCLRE1C):c.306+14A>G rs571280873 0.00019
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_000536.4(RAG2):c.1517G>A (p.Arg506His) rs144812762 0.00016
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483 0.00016
NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile) rs750692726 0.00016
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101 0.00016
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys) rs140089249 0.00015
NM_000448.3(RAG1):c.2955T>C (p.Tyr985=) rs139084848 0.00014
NM_000448.3(RAG1):c.*1178G>A rs149724031 0.00013
NM_000448.3(RAG1):c.597C>T (p.Asn199=) rs148288583 0.00013
NM_001033855.3(DCLRE1C):c.*1236A>G rs754767922 0.00013
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp) rs201779957 0.00012
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys) rs145772007 0.00012
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=) rs778439805 0.00011
NM_000448.3(RAG1):c.*3058A>G rs746468007 0.00010
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys) rs150349031 0.00009
NM_001033855.3(DCLRE1C):c.*1407C>T rs886046834 0.00009
NM_001033855.3(DCLRE1C):c.*490T>C rs1466184504 0.00009
NM_000448.3(RAG1):c.2428A>G (p.Ile810Val) rs61752933 0.00008
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907 0.00007
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=) rs369844484 0.00007
NM_000448.3(RAG1):c.*2308G>A rs766934756 0.00006
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile) rs200758244 0.00006
NM_000448.3(RAG1):c.1060C>A (p.Leu354Met) rs753165042 0.00006
NM_001033855.3(DCLRE1C):c.*11C>T rs374087349 0.00006
NM_000448.3(RAG1):c.*1705A>G rs886048264 0.00005
NM_000448.3(RAG1):c.2487G>T (p.Arg829Ser) rs752304188 0.00005
NM_001033855.3(DCLRE1C):c.*482T>C rs886046844 0.00005
NM_000448.3(RAG1):c.*1732C>T rs938546665 0.00004
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser) rs202189218 0.00004
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu) rs753042511 0.00004
NM_000448.3(RAG1):c.799G>A (p.Ala267Thr) rs148393376 0.00004
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys) rs746552030 0.00004
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) rs114767681 0.00004
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile) rs754602932 0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_000448.3(RAG1):c.152A>T (p.Asp51Val) rs147486240 0.00003
NM_000448.3(RAG1):c.2426A>G (p.Lys809Arg) rs773703055 0.00003
NM_000448.3(RAG1):c.2799A>G (p.Gly933=) rs769375583 0.00003
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala) rs760746448 0.00003
NM_000448.3(RAG1):c.425G>A (p.Arg142Gln) rs372110434 0.00003
NM_000448.3(RAG1):c.592A>C (p.Arg198=) rs746425890 0.00003
NM_001033855.3(DCLRE1C):c.*1452G>A rs537383684 0.00003
NM_001033855.3(DCLRE1C):c.*915G>A rs886046837 0.00003
NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr) rs762266339 0.00003
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045 0.00003
NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=) rs764386986 0.00003
NM_138787.4(IFTAP):c.-24+3633T>G rs886048273 0.00003
NM_000448.3(RAG1):c.*273G>C rs144069419 0.00002
NM_000448.3(RAG1):c.*627A>G rs1322490118 0.00002
NM_000536.4(RAG2):c.*348C>G rs901433887 0.00002
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly) rs753730066 0.00002
NM_000536.4(RAG2):c.140A>T (p.His47Leu) rs776913146 0.00002
NM_000536.4(RAG2):c.141T>G (p.His47Gln) rs768914369 0.00002
NM_000536.4(RAG2):c.174G>A (p.Lys58=) rs202020106 0.00002
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser) rs368935791 0.00002
NM_001033855.3(DCLRE1C):c.*238A>C rs80156707 0.00002
NM_001033855.3(DCLRE1C):c.*506G>A rs1205017687 0.00002
NM_001033855.3(DCLRE1C):c.*540A>G rs886046841 0.00002
NM_000448.3(RAG1):c.*1146C>T rs1051248827 0.00001
NM_000448.3(RAG1):c.*1287T>C rs1035645614 0.00001
NM_000448.3(RAG1):c.*1293G>C rs1214769858 0.00001
NM_000448.3(RAG1):c.*1478C>T rs898762722 0.00001
NM_000448.3(RAG1):c.*1767A>C rs1183147057 0.00001
NM_000448.3(RAG1):c.*200C>T rs886048256 0.00001
NM_000448.3(RAG1):c.*2012T>C rs1475530896 0.00001
NM_000448.3(RAG1):c.*2289T>G rs200013770 0.00001
NM_000448.3(RAG1):c.*2828G>A rs1003540768 0.00001
NM_000448.3(RAG1):c.*344G>A rs886048257 0.00001
NM_000448.3(RAG1):c.*47T>C rs955448714 0.00001
NM_000448.3(RAG1):c.*709A>G rs1203179556 0.00001
NM_000448.3(RAG1):c.2110A>G (p.Ile704Val) rs886048254 0.00001
NM_000448.3(RAG1):c.296G>A (p.Gly99Asp) rs533714087 0.00001
NM_000448.3(RAG1):c.831G>A (p.Lys277=) rs1376996089 0.00001
NM_000536.4(RAG2):c.*582T>C rs568192751 0.00001
NM_000536.4(RAG2):c.1074G>A (p.Glu358=) rs557047531 0.00001
NM_000536.4(RAG2):c.1209T>C (p.Asn403=) rs1351286949 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser) rs886048272 0.00001
NM_001033855.3(DCLRE1C):c.*1276C>G rs531017475 0.00001
NM_001033855.3(DCLRE1C):c.*1535A>G rs1352005289 0.00001
NM_001033855.3(DCLRE1C):c.*314G>A rs886046845 0.00001
NM_001033855.3(DCLRE1C):c.*74G>A rs1374817881 0.00001
NM_001033855.3(DCLRE1C):c.*768G>T rs959243137 0.00001
NM_001033855.3(DCLRE1C):c.*772A>G rs773288131 0.00001
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486 0.00001
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp) rs767573884 0.00001
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=) rs886046850 0.00001
NM_001033855.3(DCLRE1C):c.537+14G>A rs546891508 0.00001
NM_001033855.3(DCLRE1C):c.679-3T>C rs186192379 0.00001
NM_001033855.3(DCLRE1C):c.780+5G>A rs1392493001 0.00001
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) rs748507317 0.00001
NM_000448.3(RAG1):c.*1074G>A rs529708456
NM_000448.3(RAG1):c.*1083C>T rs4151040
NM_000448.3(RAG1):c.*1111G>C rs1850870990
NM_000448.3(RAG1):c.*1277G>A rs1850873586
NM_000448.3(RAG1):c.*1515T>C rs1850877439
NM_000448.3(RAG1):c.*1539G>A rs987368823
NM_000448.3(RAG1):c.*1562A>G rs185464049
NM_000448.3(RAG1):c.*1611G>A rs886048262
NM_000448.3(RAG1):c.*1701T>C rs886048263
NM_000448.3(RAG1):c.*2211C>T rs538916870
NM_000448.3(RAG1):c.*2442G>A rs886048265
NM_000448.3(RAG1):c.*2705dup rs4151048
NM_000448.3(RAG1):c.*2936TAAG[1] rs199555129
NM_000448.3(RAG1):c.*3122del rs141384582
NM_000448.3(RAG1):c.*3191T>C rs1159054368
NM_000448.3(RAG1):c.*362T>C rs946957748
NM_000448.3(RAG1):c.*363T>C rs1850859738
NM_000448.3(RAG1):c.*386del rs886048258
NM_000448.3(RAG1):c.*766A>G rs886048259
NM_000448.3(RAG1):c.*856C>A rs886048261
NM_000448.3(RAG1):c.-10C>T rs886048251
NM_000448.3(RAG1):c.1077A>G (p.Pro359=) rs886048253
NM_000448.3(RAG1):c.1770G>T (p.Leu590=) rs1850820804
NM_000448.3(RAG1):c.1786G>A (p.Val596Met) rs1850820995
NM_000448.3(RAG1):c.187C>G (p.Pro63Ala) rs1850780083
NM_000448.3(RAG1):c.276C>T (p.His92=) rs550985019
NM_000448.3(RAG1):c.2825C>T (p.Thr942Ile) rs762625040
NM_000448.3(RAG1):c.2968G>A (p.Val990Ile) rs886048255
NM_000448.3(RAG1):c.335G>T (p.Arg112Leu) rs749223640
NM_000448.3(RAG1):c.354T>A (p.Phe118Leu) rs1850784411
NM_000448.3(RAG1):c.382C>T (p.Pro128Ser) rs886048252
NM_000448.3(RAG1):c.739C>T (p.Arg247Cys) rs147203889
NM_000536.4(RAG2):c.*136A>C rs763674526
NM_000536.4(RAG2):c.*33G>T rs886048270
NM_000536.4(RAG2):c.*522C>G rs886048267
NM_000536.4(RAG2):c.*72T>C rs886048269
NM_000536.4(RAG2):c.*90T>G rs886048268
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653
NM_000536.4(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly) rs1851105950
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp) rs886048271
NM_001033855.3(DCLRE1C):c.*1044A>G rs1834496493
NM_001033855.3(DCLRE1C):c.*1060G>A rs886046835
NM_001033855.3(DCLRE1C):c.*1064A>G rs41300688
NM_001033855.3(DCLRE1C):c.*1108G>C rs1305891604
NM_001033855.3(DCLRE1C):c.*1174G>A rs41300694
NM_001033855.3(DCLRE1C):c.*1216G>A rs41300696
NM_001033855.3(DCLRE1C):c.*1390T>C rs12245956
NM_001033855.3(DCLRE1C):c.*1390T>G rs12245956
NM_001033855.3(DCLRE1C):c.*1408G>A rs886046833
NM_001033855.3(DCLRE1C):c.*1487G>C rs528458946
NM_001033855.3(DCLRE1C):c.*154G>T rs886046849
NM_001033855.3(DCLRE1C):c.*241_*242del rs750020058
NM_001033855.3(DCLRE1C):c.*306G>A rs886046846
NM_001033855.3(DCLRE1C):c.*529del rs886046843
NM_001033855.3(DCLRE1C):c.*530A>C rs886046842
NM_001033855.3(DCLRE1C):c.*550A>G rs36017616
NM_001033855.3(DCLRE1C):c.*550del rs60410513
NM_001033855.3(DCLRE1C):c.*550dup rs60410513
NM_001033855.3(DCLRE1C):c.*560dup rs886046838
NM_001033855.3(DCLRE1C):c.*719dup rs41300680
NM_001033855.3(DCLRE1C):c.*770_*773dup rs770468446
NM_001033855.3(DCLRE1C):c.*878C>G rs575242970
NM_001033855.3(DCLRE1C):c.*878C>T rs575242970
NM_001033855.3(DCLRE1C):c.*916_*921del rs886046836
NM_001033855.3(DCLRE1C):c.*949G>C rs535208039
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.1241A>G (p.Glu414Gly) rs1834845817
NM_001033855.3(DCLRE1C):c.1802C>T (p.Thr601Ile) rs1834728922
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=) rs756715291
NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp) rs41297018
NM_001033855.3(DCLRE1C):c.928_929del (p.Ser310fs) rs1564414831
NM_138787.4(IFTAP):c.-24+3628C>A rs1851360292

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