ClinVar Miner

List of variants reported as uncertain significance for Omenn syndrome by Natera, Inc.

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396 0.00063
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926 0.00058
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016 0.00056
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817 0.00029
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile) rs141357439 0.00028
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly) rs149241274 0.00025
NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr) rs151269922 0.00021
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys) rs140089249 0.00015
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys) rs150349031 0.00009
NM_000536.4(RAG2):c.718C>T (p.Leu240Phe) rs374781438 0.00006
NM_000536.4(RAG2):c.898C>T (p.Arg300Cys) rs746253611 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_000536.4(RAG2):c.157A>C (p.Asn53His) rs774097244 0.00005
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378 0.00004
NM_001033855.3(DCLRE1C):c.808T>C (p.Leu270=) rs755495143 0.00004
NM_000536.4(RAG2):c.1147G>A (p.Glu383Lys) rs377569152 0.00003
NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys) rs189020262 0.00003
NM_000536.4(RAG2):c.431T>C (p.Val144Ala) rs1851090348 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_000536.4(RAG2):c.1191T>C (p.Asp397=) rs752248630 0.00002
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) rs373151027 0.00002
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg) rs777051349 0.00002
NM_000536.4(RAG2):c.326T>A (p.Val109Asp) rs201258007 0.00002
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly) rs757524729 0.00002
NM_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln) rs377694988 0.00002
NM_001033855.3(DCLRE1C):c.798G>A (p.Gln266=) rs181619477 0.00002
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile) rs766318035 0.00001
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile) rs781487639 0.00001
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592 0.00001
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp) rs1479440369 0.00001
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323 0.00001
NM_000536.4(RAG2):c.1526G>T (p.Gly509Val) rs779267024 0.00001
NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe) rs754150018 0.00001
NM_000536.4(RAG2):c.443G>A (p.Arg148Gln) rs779879427 0.00001
NM_000536.4(RAG2):c.528T>C (p.Ala176=) rs762907049 0.00001
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser) rs1254138271 0.00001
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) rs780103215 0.00001
NM_001033855.3(DCLRE1C):c.756G>C (p.Gln252His) rs1249898599 0.00001
NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu) rs367615315
NM_000536.4(RAG2):c.1037A>G (p.Tyr346Cys) rs752759155
NM_000536.4(RAG2):c.1109A>G (p.Glu370Gly) rs1851060950
NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del) rs567942993
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.1414G>A (p.Gly472Arg) rs1413100202
NM_000536.4(RAG2):c.1564C>T (p.Leu522Phe) rs1169944983
NM_000536.4(RAG2):c.19A>G (p.Thr7Ala) rs1851108814
NM_000536.4(RAG2):c.328A>G (p.Met110Val) rs193922575
NM_000536.4(RAG2):c.335T>C (p.Ile112Thr) rs1851094752
NM_000536.4(RAG2):c.419A>G (p.His140Arg) rs1335036396
NM_000536.4(RAG2):c.459T>A (p.Gly153=) rs1406563782
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg) rs1564996998
NM_000536.4(RAG2):c.77G>C (p.Gly26Ala) rs1851105838
NM_000536.4(RAG2):c.802A>C (p.Asn268His) rs1851075681
NM_000536.4(RAG2):c.814G>A (p.Val272Ile) rs117899975
NM_000536.4(RAG2):c.844C>A (p.Gln282Lys) rs1851073997
NM_000536.4(RAG2):c.911C>T (p.Thr304Ile) rs1851070974
NM_000536.4(RAG2):c.917A>G (p.Asp306Gly) rs1851070511
NM_000536.4(RAG2):c.977C>T (p.Thr326Ile) rs781129987
NM_000536.4(RAG2):c.986T>G (p.Leu329Arg) rs1851065829
NM_001033855.3(DCLRE1C):c.110-3del rs1310434338
NM_001033855.3(DCLRE1C):c.1165G>T (p.Asp389Tyr) rs1379146832
NM_001033855.3(DCLRE1C):c.1816A>C (p.Lys606Gln) rs1834723718
NM_001033855.3(DCLRE1C):c.363-5T>A rs1839771977
NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn) rs1839556682

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.