ClinVar Miner

List of variants reported as uncertain significance for Autoimmune lymphoproliferative syndrome type 2A by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00030
NM_032977.4(CASP10):c.683C>T (p.Pro228Leu) rs143882052 0.00024
NM_032977.4(CASP10):c.953G>A (p.Gly318Glu) rs138931498 0.00022
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) rs17860403 0.00017
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) rs149912574 0.00014
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00013
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp) rs551818122 0.00013
NM_032977.4(CASP10):c.797C>T (p.Ser266Phe) rs148554420 0.00012
NM_032977.4(CASP10):c.922+5G>A rs559244194 0.00011
NM_032977.4(CASP10):c.1537T>C (p.Phe513Leu) rs143632134 0.00010
NM_032977.4(CASP10):c.314T>C (p.Leu105Pro) rs200530667 0.00007
NM_032977.4(CASP10):c.684+1G>A rs372539994 0.00007
NM_032977.4(CASP10):c.1093del (p.Tyr365fs) rs781003519 0.00005
NM_032977.4(CASP10):c.1415+1G>A rs757635087 0.00005
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) rs535121774 0.00005
NM_032977.4(CASP10):c.578-3C>T rs759671327 0.00005
NM_032977.4(CASP10):c.620C>T (p.Ser207Leu) rs770997816 0.00005
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00004
NM_032977.4(CASP10):c.577+3A>G rs780947440 0.00004
NM_032977.4(CASP10):c.163T>C (p.Ser55Pro) rs773417904 0.00003
NM_032977.4(CASP10):c.310C>T (p.Arg104Ter) rs779212325 0.00003
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00003
NM_032977.4(CASP10):c.335T>C (p.Val112Ala) rs770155279 0.00003
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) rs774005416 0.00003
NM_032977.4(CASP10):c.553A>G (p.Ile185Val) rs369231920 0.00003
NM_032977.4(CASP10):c.555A>G (p.Ile185Met) rs758869726 0.00003
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) rs369897442 0.00003
NM_032977.4(CASP10):c.89A>T (p.Asn30Ile) rs201782416 0.00003
NM_032977.4(CASP10):c.989T>C (p.Val330Ala) rs550053463 0.00003
NM_032977.4(CASP10):c.1039G>A (p.Asp347Asn) rs115264962 0.00002
NM_032977.4(CASP10):c.247C>T (p.Leu83Phe) rs759913674 0.00002
NM_032977.4(CASP10):c.347+6G>A rs754607963 0.00002
NM_032977.4(CASP10):c.554T>G (p.Ile185Arg) rs753049035 0.00002
NM_032977.4(CASP10):c.596C>T (p.Pro199Leu) rs200079223 0.00002
NM_032977.4(CASP10):c.61C>T (p.Arg21Cys) rs559979934 0.00002
NM_032977.4(CASP10):c.682C>T (p.Pro228Ser) rs370134219 0.00002
NM_032977.4(CASP10):c.701A>T (p.Asn234Ile) rs1374658340 0.00002
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg) rs1233007817 0.00001
NM_032977.4(CASP10):c.1094A>C (p.Tyr365Ser) rs757027719 0.00001
NM_032977.4(CASP10):c.1100C>T (p.Ser367Leu) rs774726645 0.00001
NM_032977.4(CASP10):c.1124G>A (p.Arg375Gln) rs375798142 0.00001
NM_032977.4(CASP10):c.1133T>C (p.Met378Thr) rs1214220018 0.00001
NM_032977.4(CASP10):c.1139A>G (p.His380Arg) rs1265165148 0.00001
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala) rs759782468 0.00001
NM_032977.4(CASP10):c.1197G>T (p.Gln399His) rs199626441 0.00001
NM_032977.4(CASP10):c.1198G>A (p.Ala400Thr) rs762404236 0.00001
NM_032977.4(CASP10):c.1207G>A (p.Gly403Ser) rs916343393 0.00001
NM_032977.4(CASP10):c.1226C>T (p.Ser409Phe) rs1409279830 0.00001
NM_032977.4(CASP10):c.1283A>G (p.Asp428Gly) rs775030613 0.00001
NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe) rs762718326 0.00001
NM_032977.4(CASP10):c.1342T>A (p.Ser448Thr) rs2126048430 0.00001
NM_032977.4(CASP10):c.1348C>T (p.Arg450Trp) rs758842495 0.00001
NM_032977.4(CASP10):c.1349G>A (p.Arg450Gln) rs949451411 0.00001
NM_032977.4(CASP10):c.134G>A (p.Gly45Glu) rs1158417087 0.00001
NM_032977.4(CASP10):c.1387T>A (p.Cys463Ser) rs773678365 0.00001
NM_032977.4(CASP10):c.1415+2T>C rs574742344 0.00001
NM_032977.4(CASP10):c.142C>T (p.Pro48Ser) rs200012872 0.00001
NM_032977.4(CASP10):c.1453G>A (p.Asp485Asn) rs758187673 0.00001
NM_032977.4(CASP10):c.146A>G (p.Asn49Ser) rs559658034 0.00001
NM_032977.4(CASP10):c.1501C>A (p.Pro501Thr) rs1422860556 0.00001
NM_032977.4(CASP10):c.1558C>T (p.Leu520Phe) rs571838418 0.00001
NM_032977.4(CASP10):c.1567T>C (p.Ter523Gln) rs1465277007 0.00001
NM_032977.4(CASP10):c.208C>G (p.Leu70Val) rs1944402071 0.00001
NM_032977.4(CASP10):c.226C>A (p.Pro76Thr) rs146696981 0.00001
NM_032977.4(CASP10):c.258A>G (p.Ile86Met) rs1324259879 0.00001
NM_032977.4(CASP10):c.29C>G (p.Ser10Cys) rs1188335683 0.00001
NM_032977.4(CASP10):c.311G>A (p.Arg104Gln) rs748398291 0.00001
NM_032977.4(CASP10):c.332G>C (p.Arg111Thr) rs199600895 0.00001
NM_032977.4(CASP10):c.347+2T>G rs536573363 0.00001
NM_032977.4(CASP10):c.361G>A (p.Glu121Lys) rs565907504 0.00001
NM_032977.4(CASP10):c.387G>T (p.Glu129Asp) rs762663648 0.00001
NM_032977.4(CASP10):c.396G>C (p.Lys132Asn) rs1944465097 0.00001
NM_032977.4(CASP10):c.416A>C (p.Lys139Thr) rs776589858 0.00001
NM_032977.4(CASP10):c.422C>T (p.Ser141Leu) rs780552445 0.00001
NM_032977.4(CASP10):c.478G>A (p.Gly160Ser) rs781000749 0.00001
NM_032977.4(CASP10):c.491A>C (p.Glu164Ala) rs1165543405 0.00001
NM_032977.4(CASP10):c.499C>G (p.Leu167Val) rs2469385325 0.00001
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.506G>T (p.Cys169Phe) rs768707944 0.00001
NM_032977.4(CASP10):c.516C>G (p.Asp172Glu) rs1465733324 0.00001
NM_032977.4(CASP10):c.522C>G (p.Cys174Trp) rs1232466545 0.00001
NM_032977.4(CASP10):c.530T>G (p.Val177Gly) rs767659964 0.00001
NM_032977.4(CASP10):c.590T>C (p.Val197Ala) rs1171794635 0.00001
NM_032977.4(CASP10):c.598C>T (p.Pro200Ser) rs752039240 0.00001
NM_032977.4(CASP10):c.610G>C (p.Glu204Gln) rs778773099 0.00001
NM_032977.4(CASP10):c.616G>A (p.Glu206Lys) rs972443043 0.00001
NM_032977.4(CASP10):c.625C>A (p.Gln209Lys) rs895371405 0.00001
NM_032977.4(CASP10):c.657T>A (p.Asp219Glu) rs1417720189 0.00001
NM_032977.4(CASP10):c.664A>G (p.Thr222Ala) rs763551197 0.00001
NM_032977.4(CASP10):c.721+1G>A rs1476766456 0.00001
NM_032977.4(CASP10):c.722-3T>C rs753628774 0.00001
NM_032977.4(CASP10):c.733A>C (p.Thr245Pro) rs1312829146 0.00001
NM_032977.4(CASP10):c.740G>T (p.Gly247Val) rs950969664 0.00001
NM_032977.4(CASP10):c.743C>T (p.Ala248Val) rs1287854907 0.00001
NM_032977.4(CASP10):c.763G>A (p.Gly255Arg) rs746191869 0.00001
NM_032977.4(CASP10):c.775G>A (p.Ala259Thr) rs1200629345 0.00001
NM_032977.4(CASP10):c.776C>T (p.Ala259Val) rs747722985 0.00001
NM_032977.4(CASP10):c.783_784del (p.Asn262fs) rs1451261167 0.00001
NM_032977.4(CASP10):c.786C>G (p.Asn262Lys) rs368675766 0.00001
NM_032977.4(CASP10):c.802A>C (p.Thr268Pro) rs770921459 0.00001
NM_032977.4(CASP10):c.817G>A (p.Ala273Thr) rs1335254762 0.00001
NM_032977.4(CASP10):c.838C>T (p.Arg280Trp) rs1351292534 0.00001
NM_032977.4(CASP10):c.887C>T (p.Ser296Phe) rs146654699 0.00001
NM_032977.4(CASP10):c.910C>T (p.His304Tyr) rs748988477 0.00001
NM_032977.4(CASP10):c.94G>A (p.Gly32Arg) rs375838979 0.00001
NM_032977.4(CASP10):c.974A>G (p.Asn325Ser) rs764487945 0.00001
NM_032977.4(CASP10):c.983C>T (p.Thr328Met) rs200424779 0.00001
NM_032977.4(CASP10):c.997G>A (p.Glu333Lys) rs972778129 0.00001
NC_000002.11:g.(?_202050501)_(202052542_?)dup
NC_000002.11:g.(?_202050501)_(202057862_?)del
NC_000002.11:g.(?_202050501)_(202082464_?)dup
NC_000002.11:g.(?_202052409)_(202052542_?)del
NC_000002.11:g.(?_202060545)_(202060691_?)del
NC_000002.11:g.(?_202068433)_(202068509_?)del
NC_000002.11:g.(?_202070585)_(202070716_?)del
NC_000002.11:g.(?_202071408)_(202074178_?)del
NC_000002.12:g.(?_201185758)_(201229103_?)dup
NC_000002.12:g.(?_201192964)_(201193139_?)dup
NC_000002.12:g.(?_201203710)_(201209582_?)del
NM_032977.4(CASP10):c.1015C>G (p.Gln339Glu) rs111775921
NM_032977.4(CASP10):c.1022G>A (p.Cys341Tyr) rs1576126510
NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser) rs1945312624
NM_032977.4(CASP10):c.1031C>T (p.Ala344Val) rs1945312703
NM_032977.4(CASP10):c.103G>A (p.Asp35Asn) rs2469359937
NM_032977.4(CASP10):c.1090G>A (p.Val364Ile)
NM_032977.4(CASP10):c.1121T>A (p.Ile374Asn) rs2126047984
NM_032977.4(CASP10):c.1148C>A (p.Ala383Asp) rs1181337952
NM_032977.4(CASP10):c.1153C>T (p.Gln385Ter) rs2126048039
NM_032977.4(CASP10):c.1192A>G (p.Ile398Val)
NM_032977.4(CASP10):c.1198G>C (p.Ala400Pro) rs762404236
NM_032977.4(CASP10):c.1199C>T (p.Ala400Val) rs764047075
NM_032977.4(CASP10):c.11A>G (p.Gln4Arg) rs2469359457
NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg) rs916343393
NM_032977.4(CASP10):c.1223C>T (p.Pro408Leu) rs1287968835
NM_032977.4(CASP10):c.1226C>A (p.Ser409Tyr) rs1409279830
NM_032977.4(CASP10):c.1226C>G (p.Ser409Cys)
NM_032977.4(CASP10):c.1237G>A (p.Glu413Lys)
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile) rs1559309649
NM_032977.4(CASP10):c.1282G>C (p.Asp428His) rs1945323616
NM_032977.4(CASP10):c.1285A>G (p.Ser429Gly) rs1945323812
NM_032977.4(CASP10):c.130A>T (p.Ile44Leu) rs766784091
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_032977.4(CASP10):c.133G>A (p.Gly45Arg)
NM_032977.4(CASP10):c.1355T>C (p.Val452Ala) rs757598550
NM_032977.4(CASP10):c.136T>G (p.Leu46Val) rs1047225163
NM_032977.4(CASP10):c.1376T>G (p.Ile459Ser) rs928561734
NM_032977.4(CASP10):c.1379A>G (p.Gln460Arg)
NM_032977.4(CASP10):c.13G>A (p.Gly5Ser) rs2469359470
NM_032977.4(CASP10):c.1402A>G (p.Lys468Glu) rs772096617
NM_032977.4(CASP10):c.1409T>C (p.Val470Ala) rs2469448187
NM_032977.4(CASP10):c.1415+5G>C
NM_032977.4(CASP10):c.1416-3C>A rs1945611761
NM_032977.4(CASP10):c.1418A>G (p.His473Arg) rs538186121
NM_032977.4(CASP10):c.1438C>T (p.Leu480Phe) rs1945612895
NM_032977.4(CASP10):c.1457A>T (p.Asp486Val) rs2126062063
NM_032977.4(CASP10):c.1460T>G (p.Val487Gly) rs1559314420
NM_032977.4(CASP10):c.1462A>G (p.Ser488Gly) rs2469471004
NM_032977.4(CASP10):c.1465C>T (p.Arg489Ter) rs746530401
NM_032977.4(CASP10):c.1522A>G (p.Arg508Gly)
NM_032977.4(CASP10):c.1526A>G (p.Lys509Arg)
NM_032977.4(CASP10):c.1530del (p.Lys510fs) rs762067226
NM_032977.4(CASP10):c.1546C>G (p.Pro516Ala) rs767866275
NM_032977.4(CASP10):c.1547C>T (p.Pro516Leu)
NM_032977.4(CASP10):c.1556C>A (p.Ala519Glu)
NM_032977.4(CASP10):c.155del (p.Leu52fs)
NM_032977.4(CASP10):c.1564_1565delinsAC (p.Leu522Thr)
NM_032977.4(CASP10):c.158A>G (p.Glu53Gly)
NM_032977.4(CASP10):c.176_177delinsGG (p.Ser59Trp) rs1559292275
NM_032977.4(CASP10):c.199G>T (p.Ala67Ser) rs773537509
NM_032977.4(CASP10):c.215G>C (p.Ser72Thr) rs2126005258
NM_032977.4(CASP10):c.221A>G (p.Glu74Gly)
NM_032977.4(CASP10):c.244CTC[1] (p.Leu83del) rs749820662
NM_032977.4(CASP10):c.247C>G (p.Leu83Val) rs759913674
NM_032977.4(CASP10):c.248T>C (p.Leu83Pro) rs2469360695
NM_032977.4(CASP10):c.250T>C (p.Tyr84His) rs2126005350
NM_032977.4(CASP10):c.251A>G (p.Tyr84Cys) rs2469360734
NM_032977.4(CASP10):c.260G>A (p.Arg87Gln) rs1270547676
NM_032977.4(CASP10):c.278A>C (p.Gln93Pro) rs1944404824
NM_032977.4(CASP10):c.284T>C (p.Leu95Pro) rs1944405008
NM_032977.4(CASP10):c.303A>T (p.Glu101Asp) rs2469360995
NM_032977.4(CASP10):c.308A>G (p.Glu103Gly)
NM_032977.4(CASP10):c.314T>A (p.Leu105Gln) rs200530667
NM_032977.4(CASP10):c.326G>C (p.Arg109Pro) rs753330049
NM_032977.4(CASP10):c.347+6G>T
NM_032977.4(CASP10):c.365T>C (p.Leu122Pro) rs1944463643
NM_032977.4(CASP10):c.376A>G (p.Ile126Val) rs1391900340
NM_032977.4(CASP10):c.380A>G (p.Asp127Gly)
NM_032977.4(CASP10):c.385G>A (p.Glu129Lys) rs2126008482
NM_032977.4(CASP10):c.387G>C (p.Glu129Asp) rs762663648
NM_032977.4(CASP10):c.387_388del (p.Asn130fs) rs1412662677
NM_032977.4(CASP10):c.389_393delinsC (p.Asn130fs) rs1944464774
NM_032977.4(CASP10):c.413T>C (p.Leu138Pro) rs1340599595
NM_032977.4(CASP10):c.419A>C (p.Asp140Ala) rs750569928
NM_032977.4(CASP10):c.437A>C (p.Glu146Ala)
NM_032977.4(CASP10):c.441+3G>A
NM_032977.4(CASP10):c.441G>A (p.Met147Ile) rs2469367759
NM_032977.4(CASP10):c.448C>A (p.Leu150Ile) rs2469385130
NM_032977.4(CASP10):c.448C>G (p.Leu150Val) rs2469385130
NM_032977.4(CASP10):c.461C>A (p.Ala154Glu) rs779113110
NM_032977.4(CASP10):c.471G>T (p.Glu157Asp) rs1037621640
NM_032977.4(CASP10):c.477del (p.Gly160fs) rs766461320
NM_032977.4(CASP10):c.47G>A (p.Cys16Tyr) rs2469359621
NM_032977.4(CASP10):c.487G>T (p.Asp163Tyr) rs769455042
NM_032977.4(CASP10):c.494A>G (p.Asp165Gly)
NM_032977.4(CASP10):c.529G>A (p.Val177Ile) rs761610318
NM_032977.4(CASP10):c.532G>T (p.Val178Leu)
NM_032977.4(CASP10):c.548G>T (p.Arg183Ile) rs753989167
NM_032977.4(CASP10):c.551del (p.Asn184fs) rs1300439483
NM_032977.4(CASP10):c.554T>C (p.Ile185Thr) rs753049035
NM_032977.4(CASP10):c.576A>G (p.Lys192=) rs1944668162
NM_032977.4(CASP10):c.577+5G>T rs1228415590
NM_032977.4(CASP10):c.578-1G>T
NM_032977.4(CASP10):c.57C>A (p.Ser19Arg)
NM_032977.4(CASP10):c.57C>G (p.Ser19Arg) rs1259990832
NM_032977.4(CASP10):c.584A>G (p.Gln195Arg) rs1483509284
NM_032977.4(CASP10):c.585G>T (p.Gln195His)
NM_032977.4(CASP10):c.587_588del (p.Ile196fs) rs767731671
NM_032977.4(CASP10):c.593C>A (p.Thr198Lys) rs2469395868
NM_032977.4(CASP10):c.595CCT[1] (p.Pro200del)
NM_032977.4(CASP10):c.601G>T (p.Val201Leu) rs755710677
NM_032977.4(CASP10):c.604G>A (p.Asp202Asn)
NM_032977.4(CASP10):c.607A>G (p.Lys203Glu) rs754547719
NM_032977.4(CASP10):c.620C>G (p.Ser207Trp) rs770997816
NM_032977.4(CASP10):c.629G>C (p.Gly210Ala) rs2469396177
NM_032977.4(CASP10):c.62G>A (p.Arg21His) rs140813639
NM_032977.4(CASP10):c.641T>G (p.Leu214Arg) rs1944777091
NM_032977.4(CASP10):c.647C>G (p.Ser216Cys) rs769898861
NM_032977.4(CASP10):c.680T>C (p.Leu227Ser)
NM_032977.4(CASP10):c.684+4G>A rs374339540
NM_032977.4(CASP10):c.684+4G>T rs374339540
NM_032977.4(CASP10):c.685-2A>G rs966440916
NM_032977.4(CASP10):c.685C>T (p.Gln229Ter) rs2126038202
NM_032977.4(CASP10):c.686A>T (p.Gln229Leu) rs1267766784
NM_032977.4(CASP10):c.721+3A>G rs1368112921
NM_032977.4(CASP10):c.722-11T>G rs767418585
NM_032977.4(CASP10):c.745C>T (p.Pro249Ser) rs751698816
NM_032977.4(CASP10):c.748del (p.Ser250fs) rs1209914426
NM_032977.4(CASP10):c.752T>C (p.Leu251Pro) rs1182459914
NM_032977.4(CASP10):c.760A>G (p.Arg254Gly) rs781669542
NM_032977.4(CASP10):c.765del (p.Met256fs) rs779839047
NM_032977.4(CASP10):c.76A>G (p.Ile26Val) rs1412206130
NM_032977.4(CASP10):c.788C>G (p.Thr263Ser) rs1438893689
NM_032977.4(CASP10):c.790C>G (p.Leu264Val)
NM_032977.4(CASP10):c.791T>C (p.Leu264Pro) rs1302914529
NM_032977.4(CASP10):c.803C>A (p.Thr268Asn) rs776737353
NM_032977.4(CASP10):c.808A>G (p.Thr270Ala)
NM_032977.4(CASP10):c.809C>A (p.Thr270Lys) rs1945189904
NM_032977.4(CASP10):c.813+3C>T rs1210811505
NM_032977.4(CASP10):c.813+6G>A
NM_032977.4(CASP10):c.814-11T>C
NM_032977.4(CASP10):c.814-6T>G rs762072082
NM_032977.4(CASP10):c.82G>C (p.Asp28His) rs774542679
NM_032977.4(CASP10):c.839G>A (p.Arg280Gln) rs750581097
NM_032977.4(CASP10):c.844C>A (p.His282Asn) rs1945269105
NM_032977.4(CASP10):c.868A>T (p.Asn290Tyr)
NM_032977.4(CASP10):c.86C>A (p.Ser29Ter) rs2469359784
NM_032977.4(CASP10):c.875A>T (p.His292Leu) rs1452409142
NM_032977.4(CASP10):c.880T>G (p.Phe294Val)
NM_032977.4(CASP10):c.895G>C (p.Asp299His) rs2469441169
NM_032977.4(CASP10):c.901C>G (p.Gln301Glu) rs936253557
NM_032977.4(CASP10):c.905G>A (p.Gly302Glu)
NM_032977.4(CASP10):c.920C>A (p.Ala307Asp) rs1291372845
NM_032977.4(CASP10):c.923-4A>G rs1559308787
NM_032977.4(CASP10):c.924G>C (p.Glu308Asp) rs778824401
NM_032977.4(CASP10):c.932G>A (p.Ser311Asn) rs2469445826
NM_032977.4(CASP10):c.933T>A (p.Ser311Arg)
NM_032977.4(CASP10):c.989del (p.Val330fs) rs2126047727

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