ClinVar Miner

List of variants reported as pathogenic for autoimmune disease by Invitae

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 305
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) rs104895479 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) rs28935477 0.00002
NM_000383.4(AIRE):c.1096-1G>A rs780906602 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.789del (p.Ala264fs) rs387906295 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) rs747862347 0.00001
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp) rs1688714312 0.00001
NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) rs768767763 0.00001
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NC_000001.10:g.(?_171605065)_(173962123_?)del
NC_000002.11:g.(?_191835429)_(192012929_?)del
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.11:g.(?_204731519)_(204732794_?)del
NC_000002.11:g.(?_204734049)_(204737535_?)del
NC_000002.12:g.(?_201228913)_(201286614_?)del
NC_000002.12:g.(?_203444868)_(203957883_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000003.11:g.(?_53125899)_(53226302_?)del
NC_000010.10:g.(?_90749963)_(90750683_?)del
NC_000010.10:g.(?_90767437)_(90770592_?)del
NC_000010.11:g.(?_88770845)_(89328078_?)del
NC_000010.11:g.(?_88989499)_(89247668_?)del
NC_000021.8:g.(?_45705870)_(45707494_?)del
NC_000021.8:g.(?_45705870)_(45711113_?)del
NC_000021.8:g.(?_45705880)_(45707026_?)del
NC_000021.8:g.(?_45705880)_(45711103_?)del
NC_000021.8:g.(?_45709640)_(45714378_?)del
NC_000021.9:g.(?_44285987)_(44297747_?)del
NC_000021.9:g.44288345_44288346del
NC_000023.10:g.(?_46466387)_(50659607_?)del
NM_000043.6(FAS):c.110T>A (p.Leu37Ter) rs1564686301
NM_000043.6(FAS):c.115A>T (p.Lys39Ter)
NM_000043.6(FAS):c.182_183insTTAT (p.Lys61fs) rs2133472134
NM_000043.6(FAS):c.259G>T (p.Glu87Ter) rs2133503091
NM_000043.6(FAS):c.312dup (p.Arg105Ter) rs2133503921
NM_000043.6(FAS):c.332A>G (p.His111Arg) rs2133504109
NM_000043.6(FAS):c.334+2dup rs606231362
NM_000043.6(FAS):c.335-2A>G
NM_000043.6(FAS):c.356del (p.Cys119fs)
NM_000043.6(FAS):c.38del (p.Thr13fs) rs1842954041
NM_000043.6(FAS):c.403del (p.Cys135fs) rs1564692984
NM_000043.6(FAS):c.442A>T (p.Lys148Ter) rs2133515017
NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer) rs1848019699
NM_000043.6(FAS):c.476_489del (p.Leu159fs)
NM_000043.6(FAS):c.498del (p.Glu167fs)
NM_000043.6(FAS):c.506-16A>G rs2133529359
NM_000043.6(FAS):c.506-1G>C
NM_000043.6(FAS):c.528G>A (p.Trp176Ter) rs866771343
NM_000043.6(FAS):c.538C>T (p.Leu180Phe)
NM_000043.6(FAS):c.563_566del (p.Val188fs) rs1207744817
NM_000043.6(FAS):c.617del (p.Asn206fs) rs1848558128
NM_000043.6(FAS):c.644T>A (p.Leu215Ter) rs2133539468
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000043.6(FAS):c.651+1G>T rs1564696849
NM_000043.6(FAS):c.651+2T>C rs267607122
NM_000043.6(FAS):c.652-1G>A rs1589488463
NM_000043.6(FAS):c.657del (p.Val220fs) rs2133547404
NM_000043.6(FAS):c.676+1G>A rs1589488640
NM_000043.6(FAS):c.676+1G>C
NM_000043.6(FAS):c.676+1G>T rs1589488640
NM_000043.6(FAS):c.685_686del (p.Leu229fs) rs2119445087
NM_000043.6(FAS):c.707_708insG (p.Ile236fs) rs2119445224
NM_000043.6(FAS):c.722C>A (p.Thr241Lys)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000043.6(FAS):c.755del (p.Asn252fs) rs1564699214
NM_000043.6(FAS):c.758G>T (p.Gly253Val) rs1848671126
NM_000043.6(FAS):c.775del (p.Lys258_Ile259insTer)
NM_000043.6(FAS):c.778G>A (p.Asp260Asn) rs121913086
NM_000043.6(FAS):c.779A>T (p.Asp260Val) rs28929498
NM_000043.6(FAS):c.814G>A (p.Glu272Lys)
NM_000043.6(FAS):c.816del (p.Glu272fs) rs2119446366
NM_000043.6(FAS):c.817C>T (p.Gln273Ter) rs121913077
NM_000043.6(FAS):c.879_880del (p.Leu294fs) rs886039524
NM_000043.6(FAS):c.881del (p.Thr293_Leu294insTer)
NM_000383.4(AIRE):c.-17_27del (p.Met1fs) rs2040477031
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
NM_000383.4(AIRE):c.107del (p.Asp36fs)
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>C
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs) rs746933095
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter) rs1482020075
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs) rs2146383463
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1214del (p.Pro405fs) rs2040560523
NM_000383.4(AIRE):c.1233del (p.Ser412fs) rs2146383573
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs) rs2146383561
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs) rs759281545
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) rs1601969308
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter)
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter) rs866898746
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1497del (p.Ala500fs)
NM_000383.4(AIRE):c.14_15del (p.Ala5fs) rs2146375012
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs) rs2146375818
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter) rs2146375836
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
NM_000383.4(AIRE):c.253_255del (p.Tyr85del) rs2146375885
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
NM_000383.4(AIRE):c.2T>C (p.Met1Thr)
NM_000383.4(AIRE):c.2T>G (p.Met1Arg) rs2146374989
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) rs1472808103
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter) rs2146376221
NM_000383.4(AIRE):c.347del (p.Pro116fs) rs1568926472
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.36del (p.Arg12fs) rs2146375064
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.449del (p.Gly150fs)
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.489del (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.489dup (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs) rs1179261094
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) rs940485051
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter) rs143952576
NM_000383.4(AIRE):c.599dup (p.Ala202fs) rs1213326298
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)
NM_000383.4(AIRE):c.747del (p.Ser249fs) rs2146379302
NM_000383.4(AIRE):c.768del (p.Arg257fs)
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter) rs2146379356
NM_000383.4(AIRE):c.798dup (p.Gly267fs)
NM_000383.4(AIRE):c.823del (p.Gln275fs) rs764819068
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.878del (p.Gln293fs)
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.969_975del (p.Ser324fs) rs2146381019
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458
NM_000639.3(FASLG):c.343C>T (p.Arg115Ter) rs773045347
NM_000639.3(FASLG):c.44del (p.Val15fs)
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) rs104895476
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) rs104895477
NM_001370466.1(NOD2):c.1068G>C (p.Glu356Asp)
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) rs104895473
NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys) rs1964520477
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) rs104895475
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461
NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter) rs777784105
NM_001372051.1(CASP8):c.306-1930dup
NM_001372051.1(CASP8):c.306-1949_306-1947delinsC rs765672355
NM_001372051.1(CASP8):c.306-1954_306-1953del
NM_001372051.1(CASP8):c.306-1976del
NM_001372051.1(CASP8):c.306-1978G>T
NM_001372051.1(CASP8):c.306-1981del rs776712453
NM_001372051.1(CASP8):c.429_430insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAAGCTCCCAAGATGACTACCTCCAGCCTCTGGCCACAGGGAACCTTCTTCATATCCCACAAGCAAAGGAGCTGGATATTTTC (p.Phe143_Ile144insPhePhePhePhePhePheXaaXaaXaaXaaGlySerSerGlnAspAspTyrLeuGlnProLeuAlaThrGlyAsnLeuLeuHisIleProGlnAlaLysGluLeuAspIlePhe)
NM_001372051.1(CASP8):c.492_493del (p.Ala165fs)
NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter)
NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter) rs1457092267
NM_001372051.1(CASP8):c.918del (p.Asn306fs)
NM_001372051.1(CASP8):c.983dup (p.Gln329fs)
NM_005214.5(CTLA4):c.115_139delinsGAAAA (p.His39fs) rs1688711686
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer) rs1559591695
NM_005214.5(CTLA4):c.216dup (p.Val73fs)
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) rs1688714490
NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter) rs1688714703
NM_005214.5(CTLA4):c.260del (p.Ala87fs) rs1688715336
NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter) rs1688716836
NM_005214.5(CTLA4):c.37_53del (p.Leu13fs) rs1581571813
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr) rs1553657430
NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter) rs1357409506
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg) rs1688718864
NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter)
NM_005214.5(CTLA4):c.458-1G>C rs1688729428
NM_005214.5(CTLA4):c.458-1G>T rs1688729428
NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter)
NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs) rs1688656690
NM_005214.5(CTLA4):c.71_72del (p.Leu24fs) rs2105772857
NM_005214.5(CTLA4):c.81dup (p.Leu28fs) rs1581571901
NM_006254.4(PRKCD):c.1182del (p.Met395fs)
NM_006254.4(PRKCD):c.1300dup (p.Asp434fs) rs1559629912
NM_006254.4(PRKCD):c.1301del (p.Asp434fs) rs781824115
NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter) rs2107257357
NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter) rs2107257487
NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter) rs576747810
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1159A>G (p.Thr387Ala)
NM_007315.4(STAT1):c.1162A>C (p.Lys388Gln) rs1559011859
NM_007315.4(STAT1):c.1162A>G (p.Lys388Glu)
NM_007315.4(STAT1):c.1231_1232del (p.Glu411fs) rs2125029430
NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)
NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) rs1692619276
NM_007315.4(STAT1):c.1398C>A (p.Ser466Arg) rs763759889
NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs) rs2125000306
NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.71_74dup (p.Ser25fs) rs1382612689
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.802G>T (p.Glu268Ter) rs2125062900
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) rs1693751220
NM_007315.4(STAT1):c.866A>G (p.Tyr289Cys) rs1553496850
NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala) rs886044787
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.1087A>G (p.Ile363Val) rs2147944391
NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu) rs122467175
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr) rs122467170
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.142C>T (p.Arg48Ter) rs2066088072
NM_014009.4(FOXP3):c.210+1G>A rs886041596
NM_014009.4(FOXP3):c.210+1G>T rs886041596
NM_014009.4(FOXP3):c.2T>A (p.Met1Lys) rs2147949777
NM_014009.4(FOXP3):c.694T>G (p.Cys232Gly) rs1569529715
NM_014009.4(FOXP3):c.736-2A>T rs2147947315
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) rs122467171
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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