ClinVar Miner

List of variants reported by Unité médicale des maladies autoinflammatoires, CHRU Montpellier

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ClinVar version:
Total variants: 638
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HGVS dbSNP gnomAD frequency
NM_001127255.2(NLRP7):c.1932-146C>T rs775879 0.70918
NM_001127255.2(NLRP7):c.2129+451C>T rs775877 0.70396
NM_001127255.2(NLRP7):c.2643-1390T>C rs269955 0.69176
NM_001127255.2(NLRP7):c.2643-364G>T rs269954 0.60827
NM_001127255.2(NLRP7):c.2811-394G>T rs534059 0.55529
NM_001127255.2(NLRP7):c.2811-1214C>T rs269940 0.54962
NM_001127255.2(NLRP7):c.2811-496T>C rs175092 0.54936
NM_001127255.2(NLRP7):c.2811-228T>C rs269935 0.54932
NM_001127255.2(NLRP7):c.2810+224G>A rs269948 0.54911
NM_001127255.2(NLRP7):c.2811-329A>G rs269937 0.54907
NM_001127255.2(NLRP7):c.2981+123T>C rs269932 0.54888
NM_001127255.2(NLRP7):c.2811-695T>C rs269939 0.54840
NM_001127255.2(NLRP7):c.2811-402C>T rs617543 0.54838
NM_001127255.2(NLRP7):c.2811-399A>G rs35932435 0.54822
NM_001127255.2(NLRP7):c.2981+142C>A rs269931 0.54591
NM_001127255.2(NLRP7):c.2810+126T>C rs647844 0.54561
NM_001127255.2(NLRP7):c.2810+123G>A rs647845 0.54545
NM_001127255.2(NLRP7):c.2643-246T>G rs269952 0.53638
NM_001127255.2(NLRP7):c.2129+313C>G rs775878 0.44928
NM_001127255.2(NLRP7):c.-39-16C>T rs775886 0.38318
NM_001127255.2(NLRP7):c.2811-678C>A rs269938 0.38049
NM_001127255.2(NLRP7):c.-39-300C>T rs10421217 0.20686
NM_001127255.2(NLRP7):c.-39-393G>A rs10421098 0.17449
NM_001127255.2(NLRP7):c.2300+128C>T rs7359934 0.16941
NM_001127255.2(NLRP7):c.-40+21C>T rs703473 0.11531
NM_001127255.2(NLRP7):c.2471+81_2471+82insG rs104895521 0.09063
NM_001127255.2(NLRP7):c.-40+36C>T rs7248636 0.08946
NM_001127255.2(NLRP7):c.2300+331A>G rs7254566 0.07187
NM_001127255.2(NLRP7):c.2811-178G>A rs12979871 0.06777
NM_001127255.2(NLRP7):c.2811-25G>C rs775870 0.06249
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001127255.2(NLRP7):c.2811-523C>T rs775872 0.06083
NM_001127255.2(NLRP7):c.-39-427T>C rs104895519 0.06026
NM_001127255.2(NLRP7):c.353-216C>G rs8106278 0.05659
NM_001127255.2(NLRP7):c.353-178A>G rs8106927 0.03622
NM_001127255.2(NLRP7):c.2129+432T>C rs104895537 0.03612
NM_144687.4(NLRP12):c.289+18C>T rs116129563 0.03610
NM_001127255.2(NLRP7):c.2300+322C>T rs77448328 0.03561
NM_001127255.2(NLRP7):c.2130-304C>G rs104895539 0.03558
NM_001127255.2(NLRP7):c.2129+38G>C rs75675646 0.03550
NM_001127255.2(NLRP7):c.1931+226C>G rs104895534 0.03546
NM_001127255.2(NLRP7):c.1932-103G>C rs79420921 0.03545
NM_001127255.2(NLRP7):c.1931+110T>C rs11879109 0.03540
NM_001127255.2(NLRP7):c.1932-57T>C rs78894374 0.03538
NM_001127255.2(NLRP7):c.2129+399G>A rs8101049 0.03535
NM_001127255.2(NLRP7):c.1931+176G>T rs104895533 0.03530
NM_001127255.2(NLRP7):c.2129+214C>T rs104895536 0.03470
NM_001127255.2(NLRP7):c.2130-718G>A rs104895538 0.03465
NM_001127255.2(NLRP7):c.2811-135C>T rs775871 0.02226
NM_001127255.2(NLRP7):c.2810+57T>C rs104895518 0.02219
NM_001127255.2(NLRP7):c.2472-126A>G rs7245955 0.02210
NM_144687.4(NLRP12):c.2243+35C>T rs104895567 0.02036
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_001127255.2(NLRP7):c.353-111C>T rs62124617 0.01168
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_000243.3(MEFV):c.911-78T>C rs11466021 0.01123
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_001127255.2(NLRP7):c.2811-28C>T rs116109745 0.00902
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_001127255.2(NLRP7):c.2811-559A>G rs79711969 0.00871
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875 0.00638
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_000243.3(MEFV):c.1260+92G>A rs104895209 0.00590
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001127255.2(NLRP7):c.-39-792C>T rs143652352 0.00423
NM_001127255.2(NLRP7):c.2472-181G>A rs12461151 0.00395
NM_003978.5(PSTPIP1):c.741+32_741+33dup rs104895417 0.00363
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000431.4(MVK):c.78+177G>A rs104895343 0.00328
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_001127255.2(NLRP7):c.701T>C (p.Leu234Ser) rs61732584 0.00321
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000431.4(MVK):c.768+23G>C rs104895347 0.00314
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001127255.2(NLRP7):c.574A>C (p.Met192Leu) rs104895529 0.00216
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00196
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00152
NM_001065.4(TNFRSF1A):c.552-89A>T rs104895264 0.00150
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_000243.3(MEFV):c.1792+39G>A rs104895176 0.00115
NM_001065.4(TNFRSF1A):c.39+97G>A rs151344626 0.00107
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_001127255.2(NLRP7):c.2156C>T (p.Ala719Val) rs104895526 0.00101
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_001127255.2(NLRP7):c.1302C>T (p.Asp434=) rs104895545 0.00083
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) rs104895506 0.00067
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) rs151344628 0.00050
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) rs104895503 0.00048
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_000431.4(MVK):c.79-62G>A rs104895344 0.00038
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_001127255.2(NLRP7):c.1196G>A (p.Cys399Tyr) rs104895510 0.00034
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_001127255.2(NLRP7):c.251G>A (p.Cys84Tyr) rs104895509 0.00032
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469 0.00024
NM_000243.3(MEFV):c.1760-28T>A rs104895169 0.00022
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) rs104895321 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) rs104895398 0.00020
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val) rs180177493 0.00019
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_001127255.2(NLRP7):c.352+230C>T rs104895527 0.00017
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_001065.4(TNFRSF1A):c.194-14G>A rs104895241 0.00016
NM_001127255.2(NLRP7):c.2300+47A>G rs104895561 0.00016
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000243.3(MEFV):c.1502G>A (p.Arg501His) rs104895196 0.00014
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_001127255.2(NLRP7):c.2146C>G (p.Pro716Ala) rs104895550 0.00011
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=) rs104895265 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00010
NM_001370466.1(NOD2):c.234G>A (p.Ala78=) rs104895419 0.00010
NM_001370466.1(NOD2):c.32G>T (p.Arg11Met) rs104895487 0.00010
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) rs104895456 0.00010
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val) rs104895512 0.00009
NM_001065.4(TNFRSF1A):c.473-16G>A rs104895251 0.00008
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484 0.00008
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) rs104895445 0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser) rs104895185 0.00007
NM_000243.3(MEFV):c.663G>C (p.Pro221=) rs104895162 0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_001127255.2(NLRP7):c.-39-90G>C rs376266895 0.00007
NM_001127255.2(NLRP7):c.939_952dup (p.Tyr318Cysfs) rs104895547 0.00007
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000431.4(MVK):c.769-103C>T rs104895351 0.00006
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp) rs104895453 0.00006
NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg) rs104895420 0.00006
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303 0.00005
NM_001065.4(TNFRSF1A):c.168G>A (p.Ser56=) rs104895280 0.00005
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser) rs104895288 0.00005
NM_001127255.2(NLRP7):c.2471+1G>A rs104895505 0.00005
NM_000243.3(MEFV):c.*21C>G rs104895200 0.00004
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp) rs104895116 0.00004
NM_000243.3(MEFV):c.1776C>T (p.Gly592=) rs104895161 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.941G>A (p.Arg314His) rs104895204 0.00004
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298 0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=) rs104895454 0.00004
NM_001370466.1(NOD2):c.2844C>T (p.Leu948=) rs104895463 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val) rs104895426 0.00004
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1937C>T (p.Pro646Leu) rs104895107 0.00003
NM_000243.3(MEFV):c.1938G>A (p.Pro646=) rs104895160 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile) rs104895096 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.2229C>T (p.Phe743=) rs104895152 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_001065.2(TNFRSF1A):c.-559G>A rs151344625 0.00003
NM_001065.4(TNFRSF1A):c.194-15C>T rs104895259 0.00003
NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg) rs104895548 0.00003
NM_001127255.2(NLRP7):c.1931+43C>T rs104895532 0.00003
NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln) rs104895502 0.00003
NM_001127255.2(NLRP7):c.2101C>T (p.Arg701Cys) rs104895535 0.00003
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala) rs180177461 0.00003
NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn) rs180177459 0.00003
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) rs104895479 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.256G>A (p.Asp86Asn) rs104895468 0.00003
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=) rs104895451 0.00003
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter) rs104895491 0.00003
NM_144687.4(NLRP12):c.1343G>C (p.Gly448Ala) rs104895566 0.00003
NM_000243.3(MEFV):c.1089C>T (p.Ser363=) rs104895170 0.00002
NM_000243.3(MEFV):c.2103G>A (p.Ala701=) rs104895095 0.00002
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.37A>T (p.Lys13Ter) rs104895307 0.00002
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.748G>A (p.Val250Ile) rs104895339 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=) rs104895274 0.00002
NM_001065.4(TNFRSF1A):c.40-1057C>G rs199422113 0.00002
NM_001065.4(TNFRSF1A):c.558G>A (p.Lys186=) rs104895275 0.00002
NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln) rs180177464 0.00002
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val) rs104895439 0.00002
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys) rs104895440 0.00002
NM_001370466.1(NOD2):c.790G>A (p.Asp264Asn) rs104895424 0.00002
NM_000243.3(MEFV):c.*12T>C rs104895183 0.00001
NM_000243.3(MEFV):c.1056C>T (p.Cys352=) rs104895164 0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu) rs104895214 0.00001
NM_000243.3(MEFV):c.1260+18G>C rs104895136 0.00001
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys) rs104895104 0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr) rs104895199 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val) rs104895191 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2169C>T (p.Asp723=) rs104895117 0.00001
NM_000243.3(MEFV):c.2259A>G (p.Gln753=) rs104895174 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile) rs104895130 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro) rs104895211 0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His) rs104895126 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000243.3(MEFV):c.675G>C (p.Glu225Asp) rs104895181 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.726C>T (p.Ser242=) rs104895127 0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) rs104895119 0.00001
NM_000431.4(MVK):c.*11C>T rs104895345 0.00001
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357 0.00001
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358 0.00001
NM_000431.4(MVK):c.1039+1G>T rs104895362 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.372-3C>T rs104895354 0.00001
NM_000431.4(MVK):c.447C>G (p.Tyr149Ter) rs104895299 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.632-71A>G rs104895346 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs) rs104895322 0.00001
NM_000431.4(MVK):c.737T>C (p.Leu246Pro) rs104895312 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NM_001065.4(TNFRSF1A):c.283C>T (p.His95Tyr) rs104895290 0.00001
NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met) rs104895278 0.00001
NM_001065.4(TNFRSF1A):c.398G>A (p.Arg133Gln) rs104895257 0.00001
NM_001127255.2(NLRP7):c.1294C>T (p.Arg432Ter) rs104895530 0.00001
NM_001127255.2(NLRP7):c.2161C>T (p.Arg721Trp) rs104895525 0.00001
NM_001127255.2(NLRP7):c.2810+2T>G rs104895513 0.00001
NM_001127255.2(NLRP7):c.2811-37C>T rs104895522 0.00001
NM_001127255.2(NLRP7):c.352+231G>A rs104895528 0.00001
NM_001243133.2(NLRP3):c.1484C>T (p.Ala495Val) rs180177474 0.00001
NM_001243133.2(NLRP3):c.1660C>T (p.Arg554Ter) rs180177460 0.00001
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe) rs104895470 0.00001
NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys) rs104895481 0.00001
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) rs104895434 0.00001
NM_001370466.1(NOD2):c.1500C>G (p.Pro500=) rs104895435 0.00001
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val) rs104895442 0.00001
NM_001370466.1(NOD2):c.2634-75G>A rs104895466 0.00001
NM_001370466.1(NOD2):c.2970-102C>G rs104895458 0.00001
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NM_000243.3(MEFV):c.-12C>G rs104895148
NM_000243.3(MEFV):c.1147C>A (p.Gln383Lys) rs104895188
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter) rs104895207
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1516A>G (p.Ile506Val) rs104895186
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.3(MEFV):c.1587+29G>T rs104895206
NM_000243.3(MEFV):c.1675C>T (p.Leu559Phe) rs104895113
NM_000243.3(MEFV):c.1727-58T>C rs104895158
NM_000243.3(MEFV):c.1729A>T (p.Thr577Ser) rs104895193
NM_000243.3(MEFV):c.1792+57C>T rs104895150
NM_000243.3(MEFV):c.1793-14A>G rs104895141
NM_000243.3(MEFV):c.1818C>T (p.Thr606=) rs104895213
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met) rs104895115
NM_000243.3(MEFV):c.1921A>T (p.Ile641Phe) rs104895147
NM_000243.3(MEFV):c.1946T>C (p.Leu649Pro) rs104895108
NM_000243.3(MEFV):c.1956C>A (p.Arg652=) rs104895084
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
NM_000243.3(MEFV):c.1975G>T (p.Val659Phe) rs104895212
NM_000243.3(MEFV):c.1981G>A (p.Asp661Asn) rs104895120
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.3(MEFV):c.2063A>G (p.Tyr688Cys) rs104895122
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2079G>C (p.Met693Ile) rs104895215
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) rs61752717
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met) rs104895094
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn) rs104895208
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys) rs104895166
NM_000243.3(MEFV):c.2113C>T (p.Pro705Ser) rs104895145
NM_000243.3(MEFV):c.2126T>G (p.Leu709Arg) rs104895184
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser) rs104895192
NM_000243.3(MEFV):c.2228T>A (p.Phe743Tyr) rs104895216
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2272C>T (p.Pro758Ser) rs104895114
NM_000243.3(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.3(MEFV):c.334dup (p.Glu112fs) rs104895109
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.375G>A (p.Glu125=) rs104895142
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro) rs104895190
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala) rs104895106
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile) rs104895125
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg) rs104895134
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs) rs104895180
NM_000243.3(MEFV):c.694T>C (p.Tyr232His) rs104895205
NM_000243.3(MEFV):c.707G>T (p.Gly236Val) rs104895159
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.833G>C (p.Arg278Pro) rs104895187
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly) rs104895167
NM_000243.3(MEFV):c.911-22T>G rs104895189
NM_000243.3(MEFV):c.983T>C (p.Val328Ala) rs104895203
NM_000431.1(MVK):c.-325A>T rs560451620
NM_000431.4(MVK):c.-13_78+1del rs104895309
NM_000431.4(MVK):c.104T>C (p.Leu35Ser) rs104895313
NM_000431.4(MVK):c.1097_1100del (p.Asp366fs) rs104895372
NM_000431.4(MVK):c.1100G>C (p.Cys367Ser) rs104895359
NM_000431.4(MVK):c.1127G>T (p.Gly376Val) rs104895340
NM_000431.4(MVK):c.1132T>C (p.Ser378Pro) rs104895349
NM_000431.4(MVK):c.1151C>T (p.Ser384Phe) rs104895383
NM_000431.4(MVK):c.116T>C (p.Leu39Pro) rs104895296
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.16_34del (p.Leu6fs) rs104895334
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.22G>C (p.Val8Leu) rs104895328
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.340_344del (p.Tyr114fs) rs104895370
NM_000431.4(MVK):c.357C>G (p.Ile119Met) rs104895341
NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del) rs104895310
NM_000431.4(MVK):c.404C>T (p.Ser135Leu) rs104895297
NM_000431.4(MVK):c.417dup (p.Gly140fs) rs104895373
NM_000431.4(MVK):c.421del (p.Ala141fs) rs104895323
NM_000431.4(MVK):c.421dup (p.Ala141fs) rs104895323
NM_000431.4(MVK):c.439G>A (p.Ala147Thr) rs104895363
NM_000431.4(MVK):c.503_512delinsAC (p.Leu168fs) rs104895375
NM_000431.4(MVK):c.516T>C (p.Asp172=) rs104895320
NM_000431.4(MVK):c.571del (p.Gln191fs) rs104895371
NM_000431.4(MVK):c.607dup (p.Val203fs) rs104895374
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.625A>G (p.Thr209Ala) rs104895302
NM_000431.4(MVK):c.632G>A (p.Gly211Glu) rs104895325
NM_000431.4(MVK):c.632G>C (p.Gly211Ala) rs104895325
NM_000431.4(MVK):c.678-1G>C rs104895376
NM_000431.4(MVK):c.684A>G (p.Pro228=) rs104895377
NM_000431.4(MVK):c.701T>C (p.Leu234Pro) rs104895365
NM_000431.4(MVK):c.728C>T (p.Thr243Ile) rs104895314
NM_000431.4(MVK):c.75C>T (p.Gly25=) rs104895330
NM_000431.4(MVK):c.769-7dup rs1555279054
NM_000431.4(MVK):c.78+2del rs104895378
NM_000431.4(MVK):c.794T>C (p.Leu265Pro) rs104895316
NM_000431.4(MVK):c.794T>G (p.Leu265Arg) rs104895316
NM_000431.4(MVK):c.79_226del (p.Val27Serfs)
NM_000431.4(MVK):c.815C>T (p.Ser272Phe) rs104895318
NM_000431.4(MVK):c.86del (p.Leu29fs) rs104895381
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
NM_000431.4(MVK):c.965C>G (p.Thr322Ser) rs104895367
NM_000431.4(MVK):c.976G>A (p.Gly326Arg) rs104895308
NM_000431.4(MVK):c.986G>A (p.Ser329Asn) rs104895350
NM_000431.4(MVK):c.987C>A (p.Ser329Arg) rs104895326
NM_001065.4(TNFRSF1A):c.1080C>G (p.Tyr360Ter) rs104895291
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.145T>C (p.Tyr49His) rs104895237
NM_001065.4(TNFRSF1A):c.145T>G (p.Tyr49Asp) rs104895237
NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr) rs104895227
NM_001065.4(TNFRSF1A):c.152A>G (p.His51Arg) rs104895289
NM_001065.4(TNFRSF1A):c.153C>G (p.His51Gln) rs104895254
NM_001065.4(TNFRSF1A):c.173G>A (p.Cys58Tyr) rs104895230
NM_001065.4(TNFRSF1A):c.173G>T (p.Cys58Phe) rs104895230
NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg) rs104895217
NM_001065.4(TNFRSF1A):c.176G>A (p.Cys59Tyr) rs104895223
NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser) rs104895223
NM_001065.4(TNFRSF1A):c.176G>T (p.Cys59Phe) rs104895223
NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly) rs104895225
NM_001065.4(TNFRSF1A):c.185G>A (p.Cys62Tyr) rs104895218
NM_001065.4(TNFRSF1A):c.194-18_194-17del rs104895267
NM_001065.4(TNFRSF1A):c.194G>A (p.Gly65Glu) rs104895239
NM_001065.4(TNFRSF1A):c.197C>T (p.Thr66Ile) rs104895243
NM_001065.4(TNFRSF1A):c.200A>C (p.Tyr67Ser) rs104895229
NM_001065.4(TNFRSF1A):c.200A>G (p.Tyr67Cys) rs104895229
NM_001065.4(TNFRSF1A):c.204G>C (p.Leu68Phe) rs104895262
NM_001065.4(TNFRSF1A):c.211_213del (p.Asp71del) rs104895246
NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg) rs104895238
NM_001065.4(TNFRSF1A):c.215G>A (p.Cys72Tyr) rs104895252
NM_001065.4(TNFRSF1A):c.215G>C (p.Cys72Ser) rs104895252
NM_001065.4(TNFRSF1A):c.236C>A (p.Thr79Lys) rs104895219
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) rs104895219
NM_001065.4(TNFRSF1A):c.241T>C (p.Cys81Arg) rs104895232
NM_001065.4(TNFRSF1A):c.242G>A (p.Cys81Tyr) rs104895220
NM_001065.4(TNFRSF1A):c.242G>T (p.Cys81Phe) rs104895220
NM_001065.4(TNFRSF1A):c.243C>G (p.Cys81Trp) rs56002980
NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg) rs104895253
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) rs104895224
NM_001065.4(TNFRSF1A):c.251G>C (p.Cys84Ser) rs104895224
NM_001065.4(TNFRSF1A):c.262T>C (p.Ser88Pro) rs104895292
NM_001065.4(TNFRSF1A):c.265T>C (p.Phe89Leu) rs104895245
NM_001065.4(TNFRSF1A):c.265T>G (p.Phe89Val) rs104895245
NM_001065.4(TNFRSF1A):c.266T>C (p.Phe89Ser) rs104895279
NM_001065.4(TNFRSF1A):c.267C>A (p.Phe89Leu) rs104895266
NM_001065.4(TNFRSF1A):c.269C>A (p.Thr90Asn) rs34751757
NM_001065.4(TNFRSF1A):c.281A>T (p.Asn94Ile) rs104895244
NM_001065.4(TNFRSF1A):c.284A>T (p.His95Leu) rs104895294
NM_001065.4(TNFRSF1A):c.287T>C (p.Leu96Pro) rs104895235
NM_001065.4(TNFRSF1A):c.293_295del (p.His98_Cys99delinsArg) rs104895261
NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser) rs104895228
NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg) rs104895228
NM_001065.4(TNFRSF1A):c.295T>G (p.Cys99Gly) rs104895228
NM_001065.4(TNFRSF1A):c.296G>A (p.Cys99Tyr) rs104895231
NM_001065.4(TNFRSF1A):c.304T>C (p.Cys102Arg) rs104895236
NM_001065.4(TNFRSF1A):c.306C>G (p.Cys102Trp) rs104895249
NM_001065.4(TNFRSF1A):c.308C>G (p.Ser103Cys) rs104895283
NM_001065.4(TNFRSF1A):c.323-32A>G rs104895281
NM_001065.4(TNFRSF1A):c.343T>C (p.Ser115Pro) rs104895226
NM_001065.4(TNFRSF1A):c.349T>C (p.Cys117Arg) rs104895221
NM_001065.4(TNFRSF1A):c.350G>A (p.Cys117Tyr) rs104895222
NM_001065.4(TNFRSF1A):c.361C>T (p.Arg121Trp) rs104895276
NM_001065.4(TNFRSF1A):c.362G>C (p.Arg121Pro) rs4149584
NM_001065.4(TNFRSF1A):c.374G>A (p.Cys125Tyr) rs104895234
NM_001065.4(TNFRSF1A):c.380G>A (p.Cys127Tyr) rs104895242
NM_001065.4(TNFRSF1A):c.40-981C>T rs151344627
NM_001065.4(TNFRSF1A):c.401A>C (p.His134Pro) rs104895284
NM_001065.4(TNFRSF1A):c.413A>C (p.Glu138Ala) rs104895286
NM_001065.4(TNFRSF1A):c.421T>A (p.Phe141Ile) rs104895233
NM_001065.4(TNFRSF1A):c.472+1G>A rs104895287
NM_001065.4(TNFRSF1A):c.472+6C>T rs104895277
NM_001065.4(TNFRSF1A):c.586_612del (p.Leu196_Gly204del) rs104895272
NM_001065.4(TNFRSF1A):c.596T>A (p.Ile199Asn) rs104895247
NM_001065.4(TNFRSF1A):c.605T>A (p.Val202Asp) rs104895285
NM_001065.4(TNFRSF1A):c.678C>G (p.Ser226=) rs104895258
NM_001127255.2(NLRP7):c.-39-386_2129+266dup
NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn) rs10418277
NM_001127255.2(NLRP7):c.1138G>C (p.Gly380Arg) rs104895557
NM_001127255.2(NLRP7):c.1455dup (p.Glu486Glyfs) rs104895559
NM_001127255.2(NLRP7):c.1708G>T (p.Glu570Ter) rs104895544
NM_001127255.2(NLRP7):c.182delC (p.Ser62Profs) rs104895546
NM_001127255.2(NLRP7):c.1931+18A>T rs104895531
NM_001127255.2(NLRP7):c.1932-178del rs104895520
NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser) rs104895549
NM_001127255.2(NLRP7):c.1970A>T (p.Asp657Val) rs104895508
NM_001127255.2(NLRP7):c.2018C>G (p.Ser673Ter) rs104895555
NM_001127255.2(NLRP7):c.2030delT (p.Leu677Profs) rs104895554
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro) rs104895502
NM_001127255.2(NLRP7):c.2144delC (p.Pro716Leufs) rs104895551
NM_001127255.2(NLRP7):c.2165A>G (p.Asp722Gly) rs104895540
NM_001127255.2(NLRP7):c.2282G>A (p.Cys761Tyr) rs104895552
NM_001127255.2(NLRP7):c.2334G>A (p.Trp778Ter) rs104895558
NM_001127255.2(NLRP7):c.2642+114G>A rs104895562
NM_001127255.2(NLRP7):c.2810+171T>A rs104895516
NM_001127255.2(NLRP7):c.2810+26C>T rs104895541
NM_001127255.2(NLRP7):c.2811-312C>A rs269936
NM_001127255.2(NLRP7):c.2811-34T>G rs104895517
NM_001127255.2(NLRP7):c.2891T>C (p.Leu964Pro) rs104895523
NM_001127255.2(NLRP7):c.295G>T (p.Glu99Ter) rs104895507
NM_001127255.2(NLRP7):c.2981+29_2981+32del rs104895515
NM_001127255.2(NLRP7):c.2981+33T>G rs104895542
NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs) rs104895553
NM_001127255.2(NLRP7):c.346A>T (p.Lys116Ter) rs104895556
NM_001127255.2(NLRP7):c.352+1G>A rs104895504
NM_001127255.2(NLRP7):c.915A>C (p.Ala305=) rs104895560
NM_001127255.2(NLRP7):c.985A>C (p.Arg329=) rs104895511
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met) rs180177463
NM_001243133.2(NLRP3):c.1051G>C (p.Val351Leu) rs180177463
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) rs180177503
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) rs121908149
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.1062G>T (p.Glu354Asp) rs180177444
NM_001243133.2(NLRP3):c.1073A>G (p.His358Arg) rs180177434
NM_001243133.2(NLRP3):c.1121C>A (p.Ala374Asp) rs180177437
NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro) rs180177445
NM_001243133.2(NLRP3):c.1218G>C (p.Met406Ile) rs180177486
NM_001243133.2(NLRP3):c.1241G>T (p.Trp414Leu) rs180177496
NM_001243133.2(NLRP3):c.1306A>C (p.Thr436Pro) rs180177465
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala) rs180177465
NM_001243133.2(NLRP3):c.1306ACC[2] (p.Thr438del) rs180177492
NM_001243133.2(NLRP3):c.1307C>A (p.Thr436Asn) rs180177433
NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile) rs180177433
NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr) rs180177430
NM_001243133.2(NLRP3):c.1315G>C (p.Ala439Pro) rs180177430
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1321T>C (p.Tyr441His) rs180177499
NM_001243133.2(NLRP3):c.1329C>G (p.Phe443Leu) rs180177477
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.1431C>A (p.Asn477Lys) rs180177485
NM_001243133.2(NLRP3):c.1438A>T (p.Ile480Phe) rs180177482
NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys) rs180177478
NM_001243133.2(NLRP3):c.1569C>A (p.Phe523Leu) rs180177439
NM_001243133.2(NLRP3):c.1569C>G (p.Phe523Leu) rs180177439
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys) rs180177458
NM_001243133.2(NLRP3):c.1687T>A (p.Tyr563Asn) rs180177479
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) rs104895389
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg) rs121908151
NM_001243133.2(NLRP3):c.1706G>C (p.Gly569Ala) rs180177491
NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys) rs180177438
NM_001243133.2(NLRP3):c.1709A>T (p.Tyr570Phe) rs180177438
NM_001243133.2(NLRP3):c.1713G>T (p.Leu571Phe) rs180177489
NM_001243133.2(NLRP3):c.1714A>T (p.Ile572Phe) rs180177490
NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser) rs121908152
NM_001243133.2(NLRP3):c.1760C>T (p.Thr587Ile) rs180177467
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly) rs121908148
NM_001243133.2(NLRP3):c.1896G>T (p.Leu632Phe) rs180177446
NM_001243133.2(NLRP3):c.1976T>A (p.Met659Lys) rs180177457
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr) rs180177435
NM_001243133.2(NLRP3):c.2062G>A (p.Glu688Lys) rs104895414
NM_001243133.2(NLRP3):c.2068G>A (p.Glu690Lys) rs180177495
NM_001243133.2(NLRP3):c.2102T>C (p.Met701Thr) rs180177497
NM_001243133.2(NLRP3):c.2129C>G (p.Ser710Cys) rs180177454
NM_001243133.2(NLRP3):c.2263G>C (p.Gly755Arg) rs180177469
NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala) rs180177473
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001243133.2(NLRP3):c.398-56C>T rs180177455
NM_001243133.2(NLRP3):c.443G>A (p.Cys148Tyr) rs180177487
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) rs180177449
NM_001243133.2(NLRP3):c.699G>A (p.Leu233=) rs180177498
NM_001243133.2(NLRP3):c.777T>G (p.Cys259Trp) rs180177475
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) rs121908150
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
NM_001243133.2(NLRP3):c.779G>T (p.Arg260Leu) rs180177442
NM_001243133.2(NLRP3):c.785T>C (p.Val262Ala) rs104895392
NM_001243133.2(NLRP3):c.785T>G (p.Val262Gly) rs104895392
NM_001243133.2(NLRP3):c.790C>G (p.Leu264Val) rs180177476
NM_001243133.2(NLRP3):c.790C>T (p.Leu264Phe) rs180177476
NM_001243133.2(NLRP3):c.791T>A (p.Leu264His) rs180177436
NM_001243133.2(NLRP3):c.791T>G (p.Leu264Arg) rs180177436
NM_001243133.2(NLRP3):c.895A>G (p.Met299Val) rs180177494
NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp) rs180177441
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) rs121908153
NM_001243133.2(NLRP3):c.907G>C (p.Asp303His) rs121908153
NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly) rs180177447
NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys) rs180177484
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro) rs180177431
NM_001243133.2(NLRP3):c.916C>A (p.Gln306Lys) rs180177432
NM_001243133.2(NLRP3):c.916C>G (p.Gln306Glu) rs180177432
NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val) rs180177468
NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser) rs121908154
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) rs180177470
NM_001243133.2(NLRP3):c.935A>C (p.His312Pro) rs180177488
NM_001243133.2(NLRP3):c.973C>T (p.Arg325Trp) rs180177500
NM_001243133.2(NLRP3):c.977G>A (p.Gly326Glu) rs180177456
NM_001243133.2(NLRP3):c.993C>A (p.Ser331Arg) rs180177451
NM_001243133.2(NLRP3):c.994A>G (p.Ser332Gly) rs672601258
NM_001370466.1(NOD2):c.*9G>A rs104895459
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.1067A>G (p.Glu356Gly) rs104895493
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser) rs104895429
NM_001370466.1(NOD2):c.1285C>T (p.Leu429=) rs104895433
NM_001370466.1(NOD2):c.1306C>G (p.Pro436Ala) rs104895482
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp) rs104895492
NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) rs104895460
NM_001370466.1(NOD2):c.1361G>A (p.Gly454Asp) rs104895494
NM_001370466.1(NOD2):c.1388G>T (p.Trp463Leu) rs104895480
NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr) rs104895478
NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) rs104895472
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) rs104895473
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val) rs104895471
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del) rs104895436
NM_001370466.1(NOD2):c.1732A>C (p.Thr578Pro) rs104895474
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) rs104895475
NM_001370466.1(NOD2):c.2139C>T (p.Ile713=) rs104895441
NM_001370466.1(NOD2):c.2394C>G (p.Asn798Lys) rs104895485
NM_001370466.1(NOD2):c.2477A>G (p.Asn826Ser) rs104895446
NM_001370466.1(NOD2):c.2538C>T (p.Phe846=) rs104895448
NM_001370466.1(NOD2):c.2549+35T>A rs104895449
NM_001370466.1(NOD2):c.2550-5T>C rs104895450
NM_001370466.1(NOD2):c.2634-81G>A rs104895465
NM_001370466.1(NOD2):c.2638T>C (p.Trp880Arg) rs104895490
NM_001370466.1(NOD2):c.276G>T (p.Leu92=) rs672601267
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile) rs104895455
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461
NM_001370466.1(NOD2):c.961C>G (p.Leu321Val) rs104895428
NM_001370466.1(NOD2):c.984G>A (p.Trp328Ter) rs104895488
NM_001375808.2(LPIN2):c.2327+1G>C rs80338808
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) rs104895418
NM_004895.3:c.3006-45_3006-44del
NM_144687.4(NLRP12):c.2072+2dup rs104895565
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_173842.1(IL1RN):c.-64_1696del
NM_173842.3(IL1RN):c.156_157del (p.Asn52fs) rs672601268
NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter) rs121913162

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