ClinVar Miner

List of variants in gene DCLRE1C reported as uncertain significance for Omenn syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.*551G>A rs373280996 0.00327
NM_001033855.3(DCLRE1C):c.*1394C>T rs75676336 0.00248
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.1101A>G (p.Pro367=) rs143782439 0.00085
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_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396 0.00063
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.419C>T (p.Ala140Val) rs41297016 0.00056
NM_001033855.3(DCLRE1C):c.*759T>C rs550717857 0.00054
NM_001033855.3(DCLRE1C):c.*429C>T rs557496672 0.00053
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769 0.00033
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.306+14A>G rs571280873 0.00019
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
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_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097 0.00015
NM_001033855.3(DCLRE1C):c.*1236A>G rs754767922 0.00013
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=) rs778439805 0.00011
NM_001033855.3(DCLRE1C):c.*1407C>T rs886046834 0.00009
NM_001033855.3(DCLRE1C):c.*490T>C rs1466184504 0.00009
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_001033855.3(DCLRE1C):c.*11C>T rs374087349 0.00006
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914 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.*482T>C rs886046844 0.00005
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=) rs140176235 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.265A>G (p.Thr89Ala) rs756366535 0.00004
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile) rs754602932 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.*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.423A>C (p.Gln141His) rs143949881 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.737C>T (p.Thr246Ile) rs374596045 0.00003
NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=) rs764386986 0.00003
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_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln) rs377694988 0.00002
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936 0.00002
NM_001033855.3(DCLRE1C):c.798G>A (p.Gln266=) rs181619477 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.*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.1739C>T (p.Pro580Leu) rs780103215 0.00001
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=) rs886046850 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>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.*550dup rs60410513
NM_001033855.3(DCLRE1C):c.*560dup rs886046838
NM_001033855.3(DCLRE1C):c.*770_*773dup rs770468446
NM_001033855.3(DCLRE1C):c.*878C>G rs575242970
NM_001033855.3(DCLRE1C):c.*916_*921del rs886046836
NM_001033855.3(DCLRE1C):c.*949G>C rs535208039
NM_001033855.3(DCLRE1C):c.110-3del rs1310434338
NM_001033855.3(DCLRE1C):c.1165G>T (p.Asp389Tyr) rs1379146832
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.1556C>T (p.Pro519Leu) rs542791233
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.1816A>C (p.Lys606Gln) rs1834723718
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly) rs533771936
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=) rs756715291
NM_001033855.3(DCLRE1C):c.363-5T>A rs1839771977
NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp) rs41297018
NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn) rs1839556682
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.928_929del (p.Ser310fs) rs1564414831

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.