ClinVar Miner

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

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ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_000448.2(RAG1):c.*1083C>T rs4151040
NM_000448.2(RAG1):c.*1101G>A rs145963034
NM_000448.2(RAG1):c.*1130A>G rs554469239
NM_000448.2(RAG1):c.*1366A>G rs371127461
NM_000448.2(RAG1):c.*1562A>G rs185464049
NM_000448.2(RAG1):c.*1611G>A rs886048262
NM_000448.2(RAG1):c.*1701T>C rs886048263
NM_000448.2(RAG1):c.*1705A>G rs886048264
NM_000448.2(RAG1):c.*200C>T rs886048256
NM_000448.2(RAG1):c.*2211C>T rs538916870
NM_000448.2(RAG1):c.*2246T>C rs4151045
NM_000448.2(RAG1):c.*2289T>G rs200013770
NM_000448.2(RAG1):c.*2308G>A rs766934756
NM_000448.2(RAG1):c.*238G>A rs4151035
NM_000448.2(RAG1):c.*2442G>A rs886048265
NM_000448.2(RAG1):c.*2530G>T rs4151047
NM_000448.2(RAG1):c.*2599A>C rs375155856
NM_000448.2(RAG1):c.*2705dup rs4151048
NM_000448.2(RAG1):c.*2940_*2943delTAAG rs199555129
NM_000448.2(RAG1):c.*3058A>G rs746468007
NM_000448.2(RAG1):c.*3122del rs141384582
NM_000448.2(RAG1):c.*3156A>G rs183729240
NM_000448.2(RAG1):c.*3184G>A rs1056403
NM_000448.2(RAG1):c.*3331A>G rs2673017
NM_000448.2(RAG1):c.*344G>A rs886048257
NM_000448.2(RAG1):c.*370G>T rs569692485
NM_000448.2(RAG1):c.*386del rs886048258
NM_000448.2(RAG1):c.*398G>A rs4151036
NM_000448.2(RAG1):c.*589G>A rs4151038
NM_000448.2(RAG1):c.*739C>T rs4151039
NM_000448.2(RAG1):c.*766A>G rs886048259
NM_000448.2(RAG1):c.*834dup rs745747958
NM_000448.2(RAG1):c.*856C>A rs886048261
NM_000448.2(RAG1):c.-10C>T rs886048251
NM_000448.2(RAG1):c.-114G>A rs872052
NM_000448.2(RAG1):c.-15+12A>G rs190968516
NM_000448.2(RAG1):c.-65A>G rs872053
NM_000448.2(RAG1):c.1077A>G (p.Pro359=) rs886048253
NM_000448.2(RAG1):c.1367C>A (p.Ala456Asp) rs201779957
NM_000448.2(RAG1):c.152A>T (p.Asp51Val) rs147486240
NM_000448.2(RAG1):c.189A>G (p.Pro63=) rs34357808
NM_000448.2(RAG1):c.1A>G (p.Met1Val) rs200575481
NM_000448.2(RAG1):c.2110A>G (p.Ile704Val) rs886048254
NM_000448.2(RAG1):c.2426A>G (p.Lys809Arg) rs773703055
NM_000448.2(RAG1):c.2459A>G (p.Lys820Arg) rs2227973
NM_000448.2(RAG1):c.2626G>A (p.Glu876Lys) rs145772007
NM_000448.2(RAG1):c.2659G>A (p.Asp887Asn) rs4151034
NM_000448.2(RAG1):c.2751G>A (p.Gln917=) rs150721661
NM_000448.2(RAG1):c.2825C>T (p.Thr942Ile) rs762625040
NM_000448.2(RAG1):c.2880A>G (p.Ala960=) rs1980131
NM_000448.2(RAG1):c.2968G>A (p.Val990Ile) rs886048255
NM_000448.2(RAG1):c.303G>A (p.Ala101=) rs4151025
NM_000448.2(RAG1):c.37T>G (p.Ser13Ala) rs760746448
NM_000448.2(RAG1):c.382C>T (p.Pro128Ser) rs886048252
NM_000448.2(RAG1):c.577G>A (p.Glu193Lys) rs34841221
NM_000448.2(RAG1):c.592A>C (p.Arg198=) rs746425890
NM_000448.2(RAG1):c.653G>A (p.Arg218His) rs202178215
NM_000448.2(RAG1):c.739C>T (p.Arg247Cys) rs147203889
NM_000448.2(RAG1):c.799G>A (p.Ala267Thr) rs148393376
NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) rs4151030
NM_000536.4(RAG2):c.*136A>C rs763674526
NM_000536.4(RAG2):c.*144G>T rs12280515
NM_000536.4(RAG2):c.*183C>A rs12280564
NM_000536.4(RAG2):c.*227T>C rs113343318
NM_000536.4(RAG2):c.*328A>G rs10836573
NM_000536.4(RAG2):c.*33G>T rs886048270
NM_000536.4(RAG2):c.*522C>G rs886048267
NM_000536.4(RAG2):c.*52T>A rs546979744
NM_000536.4(RAG2):c.*72T>C rs886048269
NM_000536.4(RAG2):c.*90T>G rs886048268
NM_000536.4(RAG2):c.-137T>C rs73455545
NM_000536.4(RAG2):c.-151A>C rs886048273
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.4(RAG2):c.140A>T (p.His47Leu) rs776913146
NM_000536.4(RAG2):c.141T>G (p.His47Gln) rs768914369
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103
NM_000536.4(RAG2):c.1517G>A (p.Arg506His) rs144812762
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser) rs886048272
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp) rs886048271
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671
NM_001033855.3(DCLRE1C):c.*1060G>A rs886046835
NM_001033855.3(DCLRE1C):c.*1174G>A rs41300694
NM_001033855.3(DCLRE1C):c.*1186T>G rs558392829
NM_001033855.3(DCLRE1C):c.*11C>T rs374087349
NM_001033855.3(DCLRE1C):c.*1215C>T rs532698576
NM_001033855.3(DCLRE1C):c.*1216G>A rs41300696
NM_001033855.3(DCLRE1C):c.*1236A>G rs754767922
NM_001033855.3(DCLRE1C):c.*1276C>G rs531017475
NM_001033855.3(DCLRE1C):c.*1280C>T rs554974498
NM_001033855.3(DCLRE1C):c.*12G>A rs369509998
NM_001033855.3(DCLRE1C):c.*1339G>C rs41300700
NM_001033855.3(DCLRE1C):c.*1390T>C rs12245956
NM_001033855.3(DCLRE1C):c.*1390T>G rs12245956
NM_001033855.3(DCLRE1C):c.*1394C>T rs75676336
NM_001033855.3(DCLRE1C):c.*1407C>T rs886046834
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.*220del rs886046848
NM_001033855.3(DCLRE1C):c.*238A>C rs80156707
NM_001033855.3(DCLRE1C):c.*241_*242del rs750020058
NM_001033855.3(DCLRE1C):c.*306G>A rs886046846
NM_001033855.3(DCLRE1C):c.*314G>A rs886046845
NM_001033855.3(DCLRE1C):c.*391C>T rs189798814
NM_001033855.3(DCLRE1C):c.*429C>T rs557496672
NM_001033855.3(DCLRE1C):c.*482T>C rs886046844
NM_001033855.3(DCLRE1C):c.*529del rs886046843
NM_001033855.3(DCLRE1C):c.*530A>C rs886046842
NM_001033855.3(DCLRE1C):c.*540A>G rs886046841
NM_001033855.3(DCLRE1C):c.*550del rs60410513
NM_001033855.3(DCLRE1C):c.*550dup rs60410513
NM_001033855.3(DCLRE1C):c.*555A>G rs568873828
NM_001033855.3(DCLRE1C):c.*560dup rs886046838
NM_001033855.3(DCLRE1C):c.*616T>C rs566371862
NM_001033855.3(DCLRE1C):c.*719dup rs41300680
NM_001033855.3(DCLRE1C):c.*752T>C rs41300682
NM_001033855.3(DCLRE1C):c.*759T>C rs550717857
NM_001033855.3(DCLRE1C):c.*770_*773dup rs770468446
NM_001033855.3(DCLRE1C):c.*792A>C rs191042274
NM_001033855.3(DCLRE1C):c.*848A>G rs41300684
NM_001033855.3(DCLRE1C):c.*878C>G rs575242970
NM_001033855.3(DCLRE1C):c.*878C>T rs575242970
NM_001033855.3(DCLRE1C):c.*915G>A rs886046837
NM_001033855.3(DCLRE1C):c.*916_*921del rs886046836
NM_001033855.3(DCLRE1C):c.*949G>C rs535208039
NM_001033855.3(DCLRE1C):c.*975G>A rs116007944
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) rs114767681
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672
NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile) rs750692726
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp) rs767573884
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=) rs886046850
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045
NM_001033855.3(DCLRE1C):c.780+10C>T rs35927251
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) rs748507317
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480
NM_001033855.3(DCLRE1C):c.924_925AG[2] (p.Ser310fs) rs1564414831
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658

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