ClinVar Miner

List of variants in gene DCLRE1C studied for Histiocytic medullary reticulosis

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
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_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001033855.3(DCLRE1C):c.*1287T>C rs41300698 0.02114
NM_001033855.3(DCLRE1C):c.*975G>A rs116007944 0.01257
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
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.457G>A (p.Gly153Arg) rs41297018 0.00940
NM_001033855.3(DCLRE1C):c.*752T>C rs41300682 0.00893
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 0.00789
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001033855.3(DCLRE1C):c.*551G>A rs373280996 0.00327
NM_001033855.3(DCLRE1C):c.*792A>C rs191042274 0.00283
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670 0.00272
NM_001033855.3(DCLRE1C):c.*1394C>T rs75676336 0.00248
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00215
NM_001033855.3(DCLRE1C):c.*555A>G rs568873828 0.00189
NM_001033855.3(DCLRE1C):c.*179G>A rs188107018 0.00097
NM_001033855.3(DCLRE1C):c.*1186T>G rs558392829 0.00096
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341 0.00077
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001033855.3(DCLRE1C):c.*1280C>T rs554974498 0.00070
NM_001033855.3(DCLRE1C):c.*1215C>T rs532698576 0.00069
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396 0.00059
NM_001033855.3(DCLRE1C):c.*616T>C rs566371862 0.00054
NM_001033855.3(DCLRE1C):c.*759T>C rs550717857 0.00054
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016 0.00054
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00052
NM_001033855.3(DCLRE1C):c.*429C>T rs557496672 0.00051
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674 0.00038
NM_001033855.3(DCLRE1C):c.*220del rs886046848 0.00032
NM_001033855.3(DCLRE1C):c.*391C>T rs189798814 0.00030
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile) rs141357439 0.00028
NM_001033855.3(DCLRE1C):c.*1525A>T rs552656235 0.00024
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001033855.3(DCLRE1C):c.*12G>A rs369509998 0.00019
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_001033855.3(DCLRE1C):c.306+14A>G rs571280873 0.00017
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101 0.00016
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914 0.00015
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052 0.00014
NM_001033855.3(DCLRE1C):c.*1236A>G rs754767922 0.00012
NM_001033855.3(DCLRE1C):c.*11C>T rs374087349 0.00011
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=) rs778439805 0.00011
NM_001033855.3(DCLRE1C):c.*490T>C rs1466184504 0.00010
NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile) rs750692726 0.00010
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907 0.00010
NM_001033855.3(DCLRE1C):c.*1407C>T rs886046834 0.00009
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=) rs369844484 0.00007
NM_001033855.3(DCLRE1C):c.161+8A>C rs542719569 0.00006
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val) rs777250271 0.00006
NM_001033855.3(DCLRE1C):c.678+5G>T rs750695358 0.00006
NM_001033855.3(DCLRE1C):c.*1452G>A rs537383684 0.00005
NM_001033855.3(DCLRE1C):c.*482T>C rs886046844 0.00005
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=) rs140176235 0.00005
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045 0.00005
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.1991G>A (p.Arg664Gln) rs779159378 0.00004
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00004
NM_001033855.3(DCLRE1C):c.808T>C (p.Leu270=) rs755495143 0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_001033855.3(DCLRE1C):c.109+1G>T rs143144732 0.00003
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs) rs1190921257 0.00003
NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr) rs762266339 0.00003
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His) rs143949881 0.00003
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile) rs754602932 0.00003
NM_001033855.3(DCLRE1C):c.498T>C (p.Thr166=) rs756168646 0.00003
NM_001033855.3(DCLRE1C):c.624G>A (p.Ala208=) rs770874430 0.00003
NM_001033855.3(DCLRE1C):c.798G>A (p.Gln266=) rs181619477 0.00003
NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=) rs764386986 0.00003
NM_001033855.3(DCLRE1C):c.*506G>A rs1205017687 0.00002
NM_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln) rs377694988 0.00002
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly) rs533771936 0.00002
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102 0.00002
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.*238A>C rs80156707 0.00001
NM_001033855.3(DCLRE1C):c.*306G>A rs886046846 0.00001
NM_001033855.3(DCLRE1C):c.*314G>A rs886046845 0.00001
NM_001033855.3(DCLRE1C):c.*540A>G rs886046841 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.*915G>A rs886046837 0.00001
NM_001033855.3(DCLRE1C):c.*949G>C rs535208039 0.00001
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159 0.00001
NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys) rs774273800 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.1739C>T (p.Pro580Leu) rs780103215 0.00001
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter) rs1250826419 0.00001
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu) rs575678692 0.00001
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr) rs121908158 0.00001
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=) rs886046850 0.00001
NM_001033855.3(DCLRE1C):c.464+1G>A rs1162344514 0.00001
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 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.756G>C (p.Gln252His) rs1249898599 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_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.*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.1085C>N (p.Ser362Xaa) rs755182961
NM_001033855.3(DCLRE1C):c.110-3del rs1310434338
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs) rs2491775008
NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter) rs2491774838
NM_001033855.3(DCLRE1C):c.1156+1G>A rs2491772724
NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs) rs2491637403
NM_001033855.3(DCLRE1C):c.1165G>T (p.Asp389Tyr) rs1379146832
NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs) rs2491637540
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs) rs2491636150
NM_001033855.3(DCLRE1C):c.1241A>G (p.Glu414Gly) rs1834845817
NM_001033855.3(DCLRE1C):c.1249T>G (p.Ser417Ala) rs1013537366
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs) rs2491634111
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter) rs2491633975
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs) rs1588893751
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter) rs2491629802
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs) rs2491629087
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer) rs2491628054
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs) rs767758218
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs) rs762761194
NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs) rs752450605
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs) rs765144892
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter) rs2491621783
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer) rs2491620281
NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu) rs2131239353
NM_001033855.3(DCLRE1C):c.1802C>T (p.Thr601Ile) rs1834728922
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs) rs1834728173
NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer) rs2491620581
NM_001033855.3(DCLRE1C):c.1816A>C (p.Lys606Gln) rs1834723718
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs) rs2491620028
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs) rs1460843145
NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter) rs1330020307
NM_001033855.3(DCLRE1C):c.246+2T>G rs2492298473
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs) rs2492174062
NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=) rs756715291
NM_001033855.3(DCLRE1C):c.306+1G>A rs2492173028
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.310_313del rs2130974126
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs) rs2492077470
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter) rs1839957089
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.363-5T>A rs1839771977
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter) rs2492040094
NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp) rs41297018
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs) rs1404214090
NM_001033855.3(DCLRE1C):c.464+2T>C rs2492038028
NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs) rs2492029077
NM_001033855.3(DCLRE1C):c.538-1G>A rs2492025655
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=) rs138120763
NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs) rs2492024816
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn) rs1839556682
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs) rs1407251815
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter) rs1564438804
NM_001033855.3(DCLRE1C):c.678+1G>A rs2492023846
NM_001033855.3(DCLRE1C):c.678+2T>G rs1215422400
NM_001033855.3(DCLRE1C):c.679-1G>A rs2130918080
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs) rs2492005406
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter) rs1346260747
NM_001033855.3(DCLRE1C):c.879G>A (p.Trp293Ter) rs2491946964
NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs) rs1564414831
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001033855.3(DCLRE1C):c.973-1G>A rs2491846909

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