ClinVar Miner

List of variants reported as benign for autoimmune disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 472
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HGVS dbSNP gnomAD frequency
NM_000639.3(FASLG):c.452-28T>C rs2639653 0.99043
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) rs900495 0.94337
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) rs1075865 0.93819
NM_001715.3(BLK):c.176-104G>A rs6994605 0.90656
NM_015474.4(SAMHD1):c.208+158A>G rs6030389 0.90232
NC_000021.9:g.44285777T>C rs751032 0.90117
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) rs2306574 0.75510
NM_006254.4(PRKCD):c.1743+29T>G rs7630600 0.74353
NM_002296.4(LBR):c.461G>A (p.Ser154Asn) rs2230419 0.72194
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_001372051.1(CASP8):c.1305-19A>G rs3769818 0.71850
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_002296.4(LBR):c.261T>C (p.Pro87=) rs1056608 0.68333
NM_139276.3(STAT3):c.1233+43C>G rs2293152 0.66160
NM_006254.4(PRKCD):c.115+21C>G rs2306571 0.65337
NM_001228.5(CASP8):c.-26-8189A>G rs3769823 0.64497
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797 0.62991
NM_001715.3(BLK):c.-1-105C>G rs12386974 0.55690
NM_001372051.1(CASP8):c.*122G>C rs3185378 0.55328
NM_001141945.3(ACTA2):c.-24+733T>C rs1800682 0.54268
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NC_000001.11:g.172658358C>T rs763110 0.49239
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_001370466.1(NOD2):c.*397A>C rs3135499 0.45667
NM_001370466.1(NOD2):c.*1156G>A rs3135500 0.44678
NM_015474.4(SAMHD1):c.276-105C>A rs6030312 0.44115
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_001715.3(BLK):c.-1-53G>A rs2245250 0.41844
NM_001715.3(BLK):c.1313-28C>T rs10097015 0.41687
NM_001715.3(BLK):c.123+88G>T rs2245232 0.41611
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_001715.3(BLK):c.1030-38C>T rs4841561 0.38972
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_005214.5(CTLA4):c.*1148+236G>A rs3087243 0.36123
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_001715.3(BLK):c.*428G>A rs1042701 0.34826
NM_001372051.1(CASP8):c.*845T>A rs13113 0.33069
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_000383.4(AIRE):c.1096-288G>A rs933150 0.30258
NM_006254.4(PRKCD):c.1119G>A (p.Glu373=) rs2230494 0.29106
NM_007315.4(STAT1):c.1874-8C>T rs2066804 0.22007
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_001370466.1(NOD2):c.-8-2303G>A rs2076752 0.21018
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843 0.17266
NM_000043.6(FAS):c.*1084C>T rs1468063 0.16498
NC_000002.12:g.203866796C>T rs16840252 0.16493
NM_001372051.1(CASP8):c.*83G>A rs17860428 0.13714
NM_001372051.1(CASP8):c.*175C>T rs2141331 0.12768
NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=) rs16835513 0.12740
NM_032977.3(CASP10):c.-206C>T rs16836789 0.12450
NM_006254.4(PRKCD):c.180T>C (p.Asp60=) rs2230493 0.12323
NM_032977.4(CASP10):c.*285G>A rs3851974 0.11086
NM_032977.4(CASP10):c.*277G>A rs3931696 0.11064
NM_006254.4(PRKCD):c.1260+19G>A rs41275531 0.10858
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_001372051.1(CASP8):c.*464T>C rs1045494 0.09887
NM_001372051.1(CASP8):c.960G>A (p.Lys320=) rs1045487 0.09873
NM_000043.6(FAS):c.*565A>T rs1051070 0.07031
NM_032977.4(CASP10):c.923-3C>T rs6753900 0.06908
NC_000002.12:g.203867624C>T rs5742909 0.06759
NM_032977.4(CASP10):c.*1920G>C rs11885191 0.06626
NM_032977.3(CASP10):c.-360T>C rs41429849 0.06590
NM_007315.4(STAT1):c.63T>C (p.Leu21=) rs2066802 0.06562
NM_032977.4(CASP10):c.*2757A>G rs13414860 0.06432
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001372051.1(CASP8):c.*99G>A rs13425383 0.05700
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_000639.3(FASLG):c.147G>A (p.Pro49=) rs61756244 0.05080
NM_001378687.1(ATP2C1):c.6+15C>G rs112703671 0.05056
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_001715.3(BLK):c.*92G>C rs14053 0.04621
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.222A>G (p.Thr74=) rs2229521 0.03925
NM_000043.6(FAS):c.*765T>C rs9658776 0.03922
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_001372051.1(CASP8):c.*429A>G rs17860433 0.03449
NM_032977.4(CASP10):c.*815C>T rs17860409 0.03348
NM_032977.4(CASP10):c.685-20C>T rs17860401 0.03338
NM_001378687.1(ATP2C1):c.636G>A (p.Ser212=) rs6810181 0.03154
NM_006254.4(PRKCD):c.1926G>A (p.Ala642=) rs56338517 0.03080
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_001372051.1(CASP8):c.*411G>C rs17860432 0.02398
NM_000043.6(FAS):c.*142A>G rs9658774 0.02166
NM_000043.6(FAS):c.141G>A (p.Gln47=) rs3218621 0.02156
NM_005223.4(DNASE1):c.379G>A (p.Gly127Arg) rs8176919 0.02101
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
NM_007315.4(STAT1):c.634-16C>T rs45479293 0.01475
NM_001370466.1(NOD2):c.2381+10A>C rs72796353 0.01447
NM_014009.4(FOXP3):c.648-20G>A rs2232368 0.01436
NM_032977.4(CASP10):c.*367G>C rs41365346 0.01382
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_001370466.1(NOD2):c.*521C>T rs5743297 0.01203
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_017935.5(BANK1):c.120G>C (p.Trp40Cys) rs35978636 0.01146
NM_014382.4(ATP2C1):c.*1820A>G rs72628536 0.01112
NM_000043.6(FAS):c.505+16C>T rs3218620 0.01048
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_001370466.1(NOD2):c.2288G>A (p.Arg763Gln) rs5743279 0.01035
NM_001370466.1(NOD2):c.1372C>T (p.Leu458=) rs5743274 0.01031
NM_001378687.1(ATP2C1):c.1348G>A (p.Ala450Thr) rs41434650 0.01025
NM_001372051.1(CASP8):c.*60C>T rs13425113 0.00993
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00836
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614 0.00774
NM_001378687.1(ATP2C1):c.*686G>A rs150024961 0.00771
NM_032977.4(CASP10):c.*3513A>G rs6752492 0.00762
NM_005214.5(CTLA4):c.75G>C (p.Leu25=) rs16840275 0.00761
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_006254.4(PRKCD):c.741C>T (p.Cys247=) rs55709737 0.00741
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) rs35285618 0.00681
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_032977.4(CASP10):c.*2689A>G rs41447745 0.00601
NM_007315.4(STAT1):c.1097+10C>G rs41488044 0.00594
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_001228.5(CASP8):c.-143T>G rs34609836 0.00568
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_006254.4(PRKCD):c.214G>C (p.Val72Leu) rs151061939 0.00535
NM_032977.4(CASP10):c.*2831C>T rs151162733 0.00535
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_007315.4(STAT1):c.1314A>G (p.Gln438=) rs138091660 0.00495
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_032977.4(CASP10):c.*2289A>C rs41369551 0.00488
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_032977.4(CASP10):c.*1471G>A rs192319559 0.00466
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_007315.4(STAT1):c.2136T>G (p.Val712=) rs35364817 0.00465
NM_032977.4(CASP10):c.*665G>A rs142072849 0.00456
NM_032977.4(CASP10):c.*77T>G rs191438878 0.00455
NM_032977.4(CASP10):c.1068G>T (p.Leu356=) rs111489269 0.00455
NM_000383.4(AIRE):c.1401-11C>T rs371136111 0.00444
NM_006254.4(PRKCD):c.1554+8G>A rs141412493 0.00429
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_032977.4(CASP10):c.*3137G>C rs41522046 0.00417
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_001370466.1(NOD2):c.2466-11G>T rs5743285 0.00402
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_001370466.1(NOD2):c.974A>G (p.His325Arg) rs5743272 0.00389
NM_032977.4(CASP10):c.*2618G>A rs41431151 0.00382
NM_001378687.1(ATP2C1):c.1683C>T (p.Ala561=) rs114319700 0.00372
NM_000639.3(FASLG):c.*606T>A rs74124375 0.00364
NM_001370466.1(NOD2):c.735C>T (p.Ser245=) rs35090774 0.00360
NM_007315.4(STAT1):c.2019A>G (p.Lys673=) rs35098579 0.00351
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_001378687.1(ATP2C1):c.117+7G>A rs41266501 0.00334
NM_032977.4(CASP10):c.*1043C>T rs553212718 0.00334
NM_007315.4(STAT1):c.463-8G>C rs2066794 0.00329
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_032977.4(CASP10):c.*1593T>C rs564618271 0.00307
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_000383.4(AIRE):c.1400+10C>T rs372277949 0.00304
NM_032977.4(CASP10):c.1296C>T (p.Ala432=) rs41331850 0.00298
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_007315.4(STAT1):c.1155G>A (p.Thr385=) rs41270237 0.00280
NM_007315.4(STAT1):c.1347+8T>G rs16833147 0.00274
NM_032977.4(CASP10):c.1415+18T>A rs111608359 0.00274
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_007315.4(STAT1):c.990G>A (p.Gln330=) rs41509946 0.00272
NM_006254.4(PRKCD):c.1260+6C>T rs180706867 0.00270
NM_032977.4(CASP10):c.*1793C>A rs114760847 0.00258
NM_001370466.1(NOD2):c.*873C>T rs373812846 0.00255
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00252
NM_032977.4(CASP10):c.*1955G>A rs139807893 0.00249
NM_032977.4(CASP10):c.*3071G>A rs41339144 0.00247
NM_014009.4(FOXP3):c.324G>A (p.Thr108=) rs111856931 0.00245
NM_080628.3(TLDC2):c.*18-170C>T rs143588093 0.00244
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn) rs145370269 0.00241
NM_001378687.1(ATP2C1):c.*1545A>G rs372789446 0.00237
NM_001378687.1(ATP2C1):c.*998C>T rs116671177 0.00231
NM_001370466.1(NOD2):c.*620G>A rs116213743 0.00230
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_032977.4(CASP10):c.534A>C (p.Val178=) rs146233833 0.00226
NM_007315.4(STAT1):c.1257G>A (p.Thr419=) rs73979321 0.00224
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_000383.4(AIRE):c.880-18G>A rs139659079 0.00213
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu) rs142366324 0.00212
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_001370466.1(NOD2):c.*990T>C rs192842874 0.00208
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_014009.4(FOXP3):c.648-13T>A rs190739204 0.00201
NM_015474.3(SAMHD1):c.-166G>T rs546207604 0.00197
NM_032977.4(CASP10):c.*1688A>G rs41515650 0.00191
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_001370466.1(NOD2):c.*89C>T rs184545855 0.00183
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_001370466.1(NOD2):c.-8-2302T>C rs139485985 0.00167
NM_014009.4(FOXP3):c.210+16C>T rs372471440 0.00165
NM_000639.3(FASLG):c.*817A>G rs45442301 0.00162
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00152
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_000639.3(FASLG):c.*406G>T rs138658215 0.00150
NM_007315.4(STAT1):c.1098-17A>G rs182094949 0.00140
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_007315.4(STAT1):c.2238+17G>T rs115758905 0.00132
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_032977.4(CASP10):c.722-16G>T rs41500646 0.00121
NM_001370466.1(NOD2):c.2886-16G>C rs199525467 0.00118
NM_000043.6(FAS):c.*638T>C rs192032778 0.00117
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030 0.00115
NM_000383.4(AIRE):c.510A>G (p.Ala170=) rs146992760 0.00113
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190 0.00110
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_014382.4(ATP2C1):c.*1839A>G rs141516276 0.00108
NM_001378687.1(ATP2C1):c.1840-12G>A rs201666095 0.00106
NM_007315.4(STAT1):c.354C>T (p.Asn118=) rs45463799 0.00106
NM_005214.5(CTLA4):c.*375G>A rs13384548 0.00105
NM_006254.4(PRKCD):c.1415+19C>T rs202080219 0.00105
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296 0.00083
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_006254.4(PRKCD):c.315+9C>A rs200076653 0.00078
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_000043.6(FAS):c.*1333G>T rs9658779 0.00071
NM_007315.4(STAT1):c.1872C>T (p.Gly624=) rs2230101 0.00070
NM_032977.4(CASP10):c.*1914C>T rs185318287 0.00070
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178 0.00069
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_007315.4(STAT1):c.1127+9C>T rs201370851 0.00066
NM_007315.4(STAT1):c.274-13C>G rs45565836 0.00065
NM_001378687.1(ATP2C1):c.1570+9A>G rs199864073 0.00064
NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser) rs33911937 0.00064
NM_000043.6(FAS):c.*1203G>A rs190060976 0.00062
NM_006254.4(PRKCD):c.539+13C>T rs200442846 0.00058
NM_032977.4(CASP10):c.1415+16T>C rs201336330 0.00058
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_032977.4(CASP10):c.347+8C>T rs140246829 0.00056
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_000639.3(FASLG):c.108G>A (p.Val36=) rs140595317 0.00054
NM_001370466.1(NOD2):c.486G>A (p.Thr162=) rs144887729 0.00051
NM_001372051.1(CASP8):c.789A>G (p.Thr263=) rs35142591 0.00051
NM_007315.4(STAT1):c.634-13C>T rs200380549 0.00050
NM_000639.3(FASLG):c.*754G>A rs55779656 0.00049
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) rs147874812 0.00046
NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=) rs2760272 0.00045
NM_001370466.1(NOD2):c.1464G>T (p.Leu488=) rs553575063 0.00042
NM_001370466.1(NOD2):c.258C>T (p.Asp86=) rs138889062 0.00041
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_001370466.1(NOD2):c.2490C>T (p.Asp830=) rs144083291 0.00039
NM_000043.6(FAS):c.505+14T>G rs76988052 0.00038
NM_000639.3(FASLG):c.395-15C>G rs370579312 0.00038
NM_006254.4(PRKCD):c.1743+8C>T rs182290450 0.00038
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_080628.3(TLDC2):c.*18-25A>G rs147220022 0.00038
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 0.00035
NM_001370466.1(NOD2):c.2886-11T>G rs200519856 0.00035
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00034
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00033
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp) rs5743276 0.00032
NM_001370466.1(NOD2):c.*877C>A rs140643942 0.00031
NM_000639.3(FASLG):c.*725A>G rs542205727 0.00030
NM_000639.3(FASLG):c.259T>C (p.Phe87Leu) rs530390117 0.00030
NM_007315.4(STAT1):c.1116T>C (p.Asn372=) rs55891000 0.00030
NM_001370466.1(NOD2):c.2100G>A (p.Pro700=) rs144468550 0.00028
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) rs756943416 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000383.4(AIRE):c.996-7C>T rs568895777 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_014009.4(FOXP3):c.1044+17G>A rs11465478 0.00026
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469 0.00024
NM_032977.4(CASP10):c.*739T>C rs559831804 0.00024
NM_000043.6(FAS):c.*582T>G rs542335688 0.00023
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873 0.00023
NM_014009.4(FOXP3):c.340C>T (p.Arg114Trp) rs200554980 0.00023
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) rs143110172 0.00022
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) rs150078153 0.00021
NM_032977.4(CASP10):c.1347T>C (p.Phe449=) rs147814983 0.00021
NM_000043.6(FAS):c.*84G>A rs754986111 0.00020
NM_000383.4(AIRE):c.996-18T>C rs78245838 0.00020
NM_032977.4(CASP10):c.930G>T (p.Leu310=) rs149096064 0.00020
NM_001370466.1(NOD2):c.*1023C>T rs5743299 0.00019
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_014009.4(FOXP3):c.874G>A (p.Val292Ile) rs74162067 0.00019
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357 0.00018
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544 0.00018
NM_014009.4(FOXP3):c.455-6C>T rs373767482 0.00018
NM_001370466.1(NOD2):c.2381+7G>T rs202111813 0.00017
NM_000639.3(FASLG):c.*3G>T rs200021473 0.00016
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) rs145190613 0.00016
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) rs149870902 0.00016
NM_001370466.1(NOD2):c.450G>A (p.Pro150=) rs775281342 0.00016
NM_007315.4(STAT1):c.1728-4C>T rs760805208 0.00016
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr) rs148561632 0.00014
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) rs149338478 0.00014
NM_014009.4(FOXP3):c.112G>T (p.Ala38Ser) rs782239006 0.00014
NM_032977.4(CASP10):c.*230G>A rs565567149 0.00014
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=) rs758223679 0.00013
NM_014009.4(FOXP3):c.249G>C (p.Gly83=) rs782210800 0.00013
NM_032977.4(CASP10):c.1415+8C>G rs200638628 0.00013
NM_032977.4(CASP10):c.666A>G (p.Thr222=) rs116125703 0.00013
NM_001370466.1(NOD2):c.1113C>T (p.Thr371=) rs5743273 0.00012
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr) rs113706344 0.00012
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001370466.1(NOD2):c.565+15T>C rs765487015 0.00011
NM_001378687.1(ATP2C1):c.2057+7T>A rs368071107 0.00011
NM_014009.4(FOXP3):c.1278C>A (p.Asn426Lys) rs369332983 0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) rs140222626 0.00011
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_033629.6(TREX1):c.120C>T (p.His40=) rs758622317 0.00011
NM_000043.6(FAS):c.*853C>T rs770098016 0.00010
NM_001370466.1(NOD2):c.234G>A (p.Ala78=) rs104895419 0.00010
NM_014009.4(FOXP3):c.624C>T (p.Phe208=) rs148215677 0.00010
NM_033629.6(TREX1):c.843C>T (p.Ala281=) rs200719301 0.00010
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807 0.00009
NM_033629.6(TREX1):c.504C>G (p.Pro168=) rs747052975 0.00009
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484 0.00008
NM_001370466.1(NOD2):c.402C>T (p.Phe134=) rs565504727 0.00008
NM_006254.4(PRKCD):c.1299G>A (p.Gly433=) rs200890839 0.00008
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile) rs367860281 0.00008
NM_000043.6(FAS):c.*174A>G rs776971935 0.00007
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_014009.4(FOXP3):c.1221C>T (p.Thr407=) rs373302430 0.00007
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00007
NM_014009.4(FOXP3):c.659C>T (p.Ala220Val) rs2232369 0.00007
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) rs560242309 0.00006
NM_001378687.1(ATP2C1):c.782G>A (p.Ser261Asn) rs200665127 0.00006
NM_014009.4(FOXP3):c.1147-13C>T rs782632308 0.00006
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His) rs782786757 0.00006
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00006
NM_080628.3(TLDC2):c.*18-50G>A rs188941712 0.00006
NM_001370466.1(NOD2):c.2160C>T (p.Tyr720=) rs751417475 0.00005
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_001370466.1(NOD2):c.869C>T (p.Ala290Val) rs199975570 0.00005
NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu) rs200427297 0.00005
NM_014009.4(FOXP3):c.1149C>T (p.Asn383=) rs782267196 0.00005
NM_014009.4(FOXP3):c.873C>T (p.Val291=) rs782371089 0.00005
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001370466.1(NOD2):c.-8-2258C>T rs117611225 0.00004
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00004
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) rs529640892 0.00004
NM_001715.3(BLK):c.252G>C (p.Lys84Asn) rs778435147 0.00004
NM_001715.3(BLK):c.344G>A (p.Arg115Gln) rs367628135 0.00004
NM_006254.4(PRKCD):c.115+14C>G rs781949983 0.00004
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_001370466.1(NOD2):c.*8G>A rs199475923 0.00003
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr) rs571102620 0.00003
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00003
NM_007315.4(STAT1):c.1713T>G (p.Pro571=) rs772114461 0.00003
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=) rs782127412 0.00003
NM_014009.4(FOXP3):c.495G>A (p.Pro165=) rs781920028 0.00003
NM_014009.4(FOXP3):c.735+14G>A rs782539969 0.00003
NM_032977.4(CASP10):c.*846A>G rs41529249 0.00003
NM_001370466.1(NOD2):c.3015C>A (p.Gly1005=) rs765204397 0.00002
NM_014009.4(FOXP3):c.116G>A (p.Arg39Gln) rs782639786 0.00002
NM_014009.4(FOXP3):c.352C>G (p.Leu118Val) rs1373580534 0.00002
NM_014009.4(FOXP3):c.736-14G>A rs76798919 0.00002
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_000043.6(FAS):c.30+12C>T rs558072404 0.00001
NM_000043.6(FAS):c.78A>G (p.Gln26=) rs746017530 0.00001
NM_000639.3(FASLG):c.451+8T>A rs372021169 0.00001
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705 0.00001
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) rs369957746 0.00001
NM_001378687.1(ATP2C1):c.-33T>C rs201306089 0.00001
NM_001715.3(BLK):c.301G>A (p.Val101Ile) rs371256341 0.00001
NM_001715.3(BLK):c.392G>A (p.Arg131Gln) rs144615291 0.00001
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu) rs1382549860 0.00001
NM_014009.4(FOXP3):c.625G>A (p.Glu209Lys) rs143048239 0.00001
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001
NM_032977.4(CASP10):c.*3019C>T rs548104022 0.00001
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_032977.4(CASP10):c.923-13T>G rs776612061 0.00001
NM_033629.6(TREX1):c.879G>C (p.Leu293=) rs368090024 0.00001
NM_000043.6(FAS):c.30+19G>A rs202165529
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.444-5dup rs751798922
NM_000383.4(AIRE):c.1095+16del
NM_000383.4(AIRE):c.1095+78del rs5844181
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1278+12G>A rs371283816
NM_000383.4(AIRE):c.132+22del
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.464-16del
NM_000383.4(AIRE):c.798C>G (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000639.3(FASLG):c.*601GT[13] rs10640513
NM_000639.3(FASLG):c.*601GT[17] rs10640513
NM_000639.3(FASLG):c.394+13dup
NM_001370466.1(NOD2):c.*183C>T rs547264433
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.2550-16_2550-15del rs762600414
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.747G>A (p.Leu249=) rs763504952
NM_001372051.1(CASP8):c.*927AT[6] rs397897264
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001378687.1(ATP2C1):c.-180-33C>A rs181664730
NM_001378687.1(ATP2C1):c.531+10G>A rs559826369
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_006254.4(PRKCD):c.376+16G>T
NM_006254.4(PRKCD):c.658-9del
NM_006254.4(PRKCD):c.912A>G (p.Ser304=) rs529176751
NM_007315.4(STAT1):c.1038-9dup
NM_007315.4(STAT1):c.1098-5dup rs200288904
NM_007315.4(STAT1):c.1222-9G>T rs551727276
NM_014009.4(FOXP3):c.1045-11C>G rs74162068
NM_014009.4(FOXP3):c.1147-12G>C
NM_014009.4(FOXP3):c.131C>G (p.Thr44Ser)
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del) rs781861708
NM_014009.4(FOXP3):c.316-3del rs782086170
NM_014009.4(FOXP3):c.336C>T (p.His112=) rs143632471
NM_014009.4(FOXP3):c.543-3dup
NM_014009.4(FOXP3):c.59C>T (p.Pro20Leu) rs2066089076
NM_014009.4(FOXP3):c.826G>A (p.Asp276Asn)
NM_014009.4(FOXP3):c.968-13del
NM_032977.4(CASP10):c.*1520C>T rs41331447
NM_032977.4(CASP10):c.*1982del rs111572089
NM_032977.4(CASP10):c.1415+18del
NM_032977.4(CASP10):c.1415+18dup rs749295497
NM_032977.4(CASP10):c.174C>T (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.347+9G>T rs7608787
NM_032977.4(CASP10):c.348-16dup rs771877930
NM_032977.4(CASP10):c.923-12G>T rs201904750
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)
NM_139276.3(STAT3):c.1601-10dup rs3830585

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