ClinVar Miner

List of variants studied for Severe combined immunodeficiency due to DCLRE1C deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
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HGVS dbSNP
DCLRE1C, EX1-4DEL
DCLRE1C, EX5-6DEL
DCLRE1C, EX5-8DEL
NC_000010.10:g.(?_14981789)_(14981888_?)dup
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NC_000010.11:g.(?_14903611)_(14955432_?)dup
NC_000010.11:g.(?_14935443)_(14936613_?)del
NC_000010.11:g.(?_14939790)_(14954030_?)dup
NC_000010.11:g.(?_14939800)_(14945199_?)del
NC_000010.11:g.(?_14945085)_(14945209_?)del
NC_000010.11:g.(?_14945085)_(14954030_?)del
NC_000010.11:g.(?_14945095)_(14945199_?)del
NC_000010.11:g.(?_14945095)_(14954442_?)del
NC_000010.11:g.14935443_14954030del
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993
NM_001033855.3(DCLRE1C):c.1024A>G (p.Ile342Val)
NM_001033855.3(DCLRE1C):c.1031T>C (p.Val344Ala)
NM_001033855.3(DCLRE1C):c.1048A>G (p.Lys350Glu)
NM_001033855.3(DCLRE1C):c.1057G>A (p.Glu353Lys)
NM_001033855.3(DCLRE1C):c.1078C>T (p.Arg360Trp) rs748164114
NM_001033855.3(DCLRE1C):c.109+1G>T
NM_001033855.3(DCLRE1C):c.1095G>A (p.Thr365=) rs766628291
NM_001033855.3(DCLRE1C):c.110-7T>G rs930637788
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439
NM_001033855.3(DCLRE1C):c.1106A>G (p.Tyr369Cys)
NM_001033855.3(DCLRE1C):c.1195A>G (p.Ile399Val)
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile) rs770043960
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881
NM_001033855.3(DCLRE1C):c.1287G>C (p.Leu429=) rs115081573
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg) rs921819288
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter)
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys) rs769948633
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282
NM_001033855.3(DCLRE1C):c.1379_1381AAG[2] (p.Glu462del) rs373709012
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys)
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln)
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala) rs1588894157
NM_001033855.3(DCLRE1C):c.1445C>A (p.Ala482Asp)
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) rs114767681
NM_001033855.3(DCLRE1C):c.1492G>A (p.Glu498Lys)
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670
NM_001033855.3(DCLRE1C):c.1524T>G (p.Pro508=) rs751349938
NM_001033855.3(DCLRE1C):c.1532C>A (p.Thr511Lys)
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1565T>C (p.Phe522Ser)
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540
NM_001033855.3(DCLRE1C):c.161+8A>C rs542719569
NM_001033855.3(DCLRE1C):c.162-1G>T
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val)
NM_001033855.3(DCLRE1C):c.1633G>C (p.Glu545Gln) rs1588892650
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg) rs1588892551
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly) rs1588892169
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.1709T>G (p.Ile570Ser) rs769187936
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769
NM_001033855.3(DCLRE1C):c.1737A>T (p.Arg579Ser)
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) rs780103215
NM_001033855.3(DCLRE1C):c.1743A>G (p.Thr581=) rs750453725
NM_001033855.3(DCLRE1C):c.1747A>C (p.Lys583Gln)
NM_001033855.3(DCLRE1C):c.1764C>T (p.Ala588=) rs1588891334
NM_001033855.3(DCLRE1C):c.1783G>A (p.Val595Ile)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs)
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695
NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu) rs760292491
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=) rs199619187
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg) rs1589136760
NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met) rs751811224
NM_001033855.3(DCLRE1C):c.1865C>T (p.Thr622Ile)
NM_001033855.3(DCLRE1C):c.1867A>G (p.Thr623Ala)
NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys) rs1588890065
NM_001033855.3(DCLRE1C):c.1885C>T (p.His629Tyr)
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205
NM_001033855.3(DCLRE1C):c.1897del (p.Glu633fs)
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly) rs533771936
NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys) rs1051813612
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser)
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile) rs141357439
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu) rs1554773491
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378
NM_001033855.3(DCLRE1C):c.1996C>G (p.His666Asp)
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.2002C>T (p.Gln668Ter) rs1409082603
NM_001033855.3(DCLRE1C):c.2010_2011AT[1] (p.Leu670_Tyr671insTer) rs1564361862
NM_001033855.3(DCLRE1C):c.201_203GTT[2] (p.Leu70del)
NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser) rs754829084
NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr) rs140602902
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp) rs1033877372
NM_001033855.3(DCLRE1C):c.2053del (p.Arg685fs)
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739
NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr)
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala)
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341
NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp)
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.340G>A (p.Gly114Ser)
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)
NM_001033855.3(DCLRE1C):c.361A>T (p.Met121Leu)
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773
NM_001033855.3(DCLRE1C):c.375G>A (p.Gln125=) rs150951839
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser) rs752159513
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) rs146832860
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His) rs143949881
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs) rs1589070600
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)
NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs)
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val) rs1279014555
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu) rs1589064324
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter) rs1340132582
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln) rs150854849
NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His)
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp) rs1468919857
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln)
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp) rs766699328
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln) rs760897653
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly) rs1252776122
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn)
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu)
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=) rs138120763
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs)
NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala)
NM_001033855.3(DCLRE1C):c.675C>T (p.Val225=) rs150805064
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.678+5G>T rs750695358
NM_001033855.3(DCLRE1C):c.678+8G>A rs920315432
NM_001033855.3(DCLRE1C):c.679-6C>T rs201040496
NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala) rs756395955
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=) rs369844484
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.762T>C (p.His254=) rs143042511
NM_001033855.3(DCLRE1C):c.767G>A (p.Cys256Tyr)
NM_001033855.3(DCLRE1C):c.779A>G (p.Lys260Arg)
NM_001033855.3(DCLRE1C):c.780+1G>C
NM_001033855.3(DCLRE1C):c.780+1del rs786205074
NM_001033855.3(DCLRE1C):c.780+6T>G
NM_001033855.3(DCLRE1C):c.789A>G (p.Glu263=) rs149039288
NM_001033855.3(DCLRE1C):c.798G>A (p.Gln266=) rs181619477
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) rs748507317
NM_001033855.3(DCLRE1C):c.803G>A (p.Ser268Asn)
NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys) rs1589019320
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr) rs748516669
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.925G>C (p.Glu309Gln)
NM_001033855.3(DCLRE1C):c.941C>T (p.Ala314Val)
NM_001033855.3(DCLRE1C):c.945T>C (p.Cys315=) rs747818099
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001033855.3(DCLRE1C):c.967A>T (p.Ser323Cys)
NM_001033855.3(DCLRE1C):c.971A>G (p.Glu324Gly)
NM_001033855.3(DCLRE1C):c.972+1G>C rs1564414523
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658
NM_002312.3(LIG4):c.*1035G>A rs10131
NM_002312.3(LIG4):c.*104C>G rs2232644
NM_002312.3(LIG4):c.*1081C>T rs113388531
NM_002312.3(LIG4):c.*129A>G rs3093767
NM_002312.3(LIG4):c.*131A>T rs3093768
NM_002312.3(LIG4):c.*166G>C rs538355612
NM_002312.3(LIG4):c.*204A>G rs3093769
NM_002312.3(LIG4):c.*242A>G rs886049946
NM_002312.3(LIG4):c.*26C>G
NM_002312.3(LIG4):c.*26del rs886049948
NM_002312.3(LIG4):c.*285A>G rs748776641
NM_002312.3(LIG4):c.*291A>G
NM_002312.3(LIG4):c.*306A>G rs886049945
NM_002312.3(LIG4):c.*34T>G rs369320737
NM_002312.3(LIG4):c.*352A>C rs886049944
NM_002312.3(LIG4):c.*486A>G rs543340651
NM_002312.3(LIG4):c.*525T>G
NM_002312.3(LIG4):c.*54G>A rs2232643
NM_002312.3(LIG4):c.*562_*563insAAT rs112171260
NM_002312.3(LIG4):c.*56G>C rs886049947
NM_002312.3(LIG4):c.*599_*602del rs3093770
NM_002312.3(LIG4):c.*614A>C rs3093771
NM_002312.3(LIG4):c.*677A>G rs3093772
NM_002312.3(LIG4):c.*685T>C
NM_002312.3(LIG4):c.*736C>G
NM_002312.3(LIG4):c.*738G>A rs567294082
NM_002312.3(LIG4):c.*781A>G
NM_002312.3(LIG4):c.*826A>T rs116018061
NM_002312.3(LIG4):c.*855_*856insTTTT rs146506306
NM_002312.3(LIG4):c.*857T>C
NM_002312.3(LIG4):c.*906T>A rs886049943
NM_002312.3(LIG4):c.*983G>A rs75642465
NM_002312.3(LIG4):c.-132A>G rs117159741
NM_002312.3(LIG4):c.-196G>A rs1805385
NM_002312.3(LIG4):c.-260G>C rs886049950
NM_002312.3(LIG4):c.-273C>T rs1805387
NM_002312.3(LIG4):c.-29+15T>G rs183107946
NM_002312.3(LIG4):c.-32C>T rs536441091
NM_002312.3(LIG4):c.-7C>T rs4987182
NM_206937.2(LIG4):c.*620_*624AATTG[1] rs544474901
NM_206937.2(LIG4):c.-101-181T>C rs1009787521
NM_206937.2(LIG4):c.1020A>G (p.Gln340=) rs535025599
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe) rs144322912
NM_206937.2(LIG4):c.1198A>C (p.Ile400Leu) rs886049949
NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser)
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) rs147181971
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) rs143590752
NM_206937.2(LIG4):c.1568C>G (p.Ala523Gly) rs781102255
NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe) rs3742212
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)
NM_206937.2(LIG4):c.1756G>T (p.Asp586Tyr) rs753492255
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) rs199638675
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg) rs142144659
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) rs143767581
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) rs529756815
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala) rs137899041
NM_206937.2(LIG4):c.2435T>G (p.Met812Arg)
NM_206937.2(LIG4):c.2499T>C (p.Asn833=) rs769297575
NM_206937.2(LIG4):c.2518A>G (p.Ile840Val) rs200369995
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870
NM_206937.2(LIG4):c.2549C>T (p.Ala850Val) rs188422094
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196
NM_206937.2(LIG4):c.437A>G (p.Gln146Arg) rs754996739
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) rs138021217
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln) rs748385144
NM_206937.2(LIG4):c.607A>G (p.Ile203Val) rs778278351
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639
NM_206937.2(LIG4):c.968T>C (p.Ile323Thr)

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