ClinVar Miner

List of variants studied for Omenn syndrome by Natera, Inc.

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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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_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949 0.01926
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670 0.00272
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341 0.00085
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.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016 0.00056
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674 0.00038
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
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_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 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_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu) rs575678692 0.00015
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052 0.00014
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.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_000536.4(RAG2):c.157A>C (p.Asn53His) rs774097244 0.00005
NM_000536.4(RAG2):c.1443T>C (p.His481=) rs560115611 0.00004
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_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 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.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000536.4(RAG2):c.431T>C (p.Val144Ala) rs1851090348 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 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.1074G>A (p.Glu358=) rs557047531 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.442C>T (p.Arg148Ter) rs1315729938 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.595G>T (p.Glu199Ter) rs748727021 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019 0.00001
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser) rs1254138271 0.00001
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486 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.104G>T (p.Gly35Val) rs148508754
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.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) rs1204766339
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
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.686G>A (p.Arg229Gln) rs121917894
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.948A>G (p.Ile316Met) rs545910812
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.594G>A (p.Pro198=) rs138120763
NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn) rs1839556682

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