ClinVar Miner

List of variants reported as not provided for connective tissue disorder

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 795
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_000243.3(MEFV):c.911-78T>C rs11466021 0.01123
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
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_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_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000431.4(MVK):c.768+23G>C rs104895347 0.00314
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
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_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00152
NM_001065.4(TNFRSF1A):c.552-89A>T rs104895264 0.00150
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
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_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 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_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
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_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 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_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) rs151344628 0.00050
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
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_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 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_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_007046.4(EMILIN1):c.1781G>A (p.Arg594His) rs200339477 0.00027
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_004119.3(FLT3):c.2211G>C (p.Met737Ile) rs148592477 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_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 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_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_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val) rs377554134 0.00011
NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr) rs377348789 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_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 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_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 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_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val) rs202059991 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.2082G>A (p.Met694Ile) rs28940578 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_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 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_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser) rs202009944 0.00006
NM_144687.4(NLRP12):c.1027C>T (p.Arg343Trp) rs112159191 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_001558.4(IL10RA):c.712A>G (p.Ile238Val) rs200227183 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 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_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 0.00004
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser) rs765069829 0.00004
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser) rs760982375 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_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala) rs753974933 0.00004
NM_003977.4(AIP):c.135C>T (p.Asp45=) rs181969066 0.00004
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561 0.00004
NM_004972.4(JAK2):c.2571+5A>C rs775085241 0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 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_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 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_001370466.1(NOD2):c.947T>C (p.Leu316Pro) rs369732140 0.00003
NM_003977.4(AIP):c.-5G>C rs267606562 0.00003
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716 0.00003
NM_003977.4(AIP):c.965C>T (p.Ala322Val) rs267606586 0.00003
NM_004371.4(COPA):c.3533G>A (p.Arg1178His) rs373521245 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) rs190405488 0.00002
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_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 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.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_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550 0.00002
NM_004327.4(BCR):c.2699A>G (p.Asn900Ser) rs752530462 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met) rs1480715909 0.00001
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_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 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_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 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_001243133.2(NLRP3):c.1484C>T (p.Ala495Val) rs180177474 0.00001
NM_001243133.2(NLRP3):c.1660C>T (p.Arg554Ter) rs180177460 0.00001
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu) rs1214168989 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_001844.5(COL2A1):c.1679G>C (p.Arg560Pro) rs1186241291 0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) rs886043832 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg) rs199755899 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser) rs754153159 0.00001
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) rs121434520 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His) rs369035155 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146 0.00001
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln) rs1235525082 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu) rs753723351 0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861 0.00001
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu) rs564317065 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp) rs1555398626
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr) rs2043300504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000243.3(MEFV):c.-12C>G rs104895148
NM_000243.3(MEFV):c.1012G>C (p.Val338Leu) rs483353018
NM_000243.3(MEFV):c.1147C>A (p.Gln383Lys) rs104895188
NM_000243.3(MEFV):c.1166A>T (p.Asp389Val) rs786205886
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.1730C>A (p.Thr577Asn) rs1057516210
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.1910A>G (p.Asp637Gly) rs387907568
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.1949C>A (p.Ser650Tyr) rs142748016
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.1996A>G (p.Ile666Val) rs387907566
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.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.3(MEFV):c.2053G>A (p.Glu685Lys) rs587783378
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
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.2305C>G (p.Pro769Ala) rs387907565
NM_000243.3(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.3(MEFV):c.314C>A (p.Ala105Glu) rs387907569
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.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.369C>A (p.His123Gln) rs587783379
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.464G>C (p.Arg155Thr) rs483353017
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.688G>C (p.Glu230Gln) rs104895080
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.818C>T (p.Ser273Leu) rs483353019
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.866C>A (p.Ala289Glu) rs104895132
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_000302.4(PLOD1):c.702C>G (p.Asp234Glu) rs566018612
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
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_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
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_001111.5(ADAR):c.2830A>C (p.Lys944Gln) rs373564780
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
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_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu) rs912981227
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.631A>T (p.Ser211Cys) rs1001861018
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.10G>T (p.Val4Leu) rs2143203306
NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs) rs318240736
NM_001375808.2(LPIN2):c.2327+1G>C rs80338808
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp) rs1939617011
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.3943T>G (p.Cys1315Gly) rs527236144
NM_001844.5(COL2A1):c.4018A>G (p.Lys1340Glu) rs927945133
NM_001844.5(COL2A1):c.541G>C (p.Ala181Pro) rs1939975439
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4346-2A>T rs587776518
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn) rs1656695125
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg) rs2035412849
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) rs267606537
NM_003977.4(AIP):c.166C>A (p.Arg56Ser) rs267606538
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.245_249del (p.Glu82fs) rs267606542
NM_003977.4(AIP):c.249G>T (p.Gly83=) rs104895072
NM_003977.4(AIP):c.250G>A (p.Glu84Lys) rs267606543
NM_003977.4(AIP):c.280-1G>A rs267606544
NM_003977.4(AIP):c.286_287del (p.Val96fs) rs267606545
NM_003977.4(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.350del (p.Gly117fs) rs267606549
NM_003977.4(AIP):c.3_4insC (p.Ala2fs) rs267606547
NM_003977.4(AIP):c.404del (p.His135fs) rs267606551
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) rs267606552
NM_003977.4(AIP):c.429G>A (p.Gln143=) rs267606553
NM_003977.4(AIP):c.468+1G>A rs267606554
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.469-2A>G rs267606556
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.500del (p.Pro167fs) rs267606557
NM_003977.4(AIP):c.521_525del (p.Glu174fs) rs267606558
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) rs104895075
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.4(AIP):c.714C>T (p.Cys238=) rs267606570
NM_003977.4(AIP):c.715C>T (p.Gln239Ter) rs267606571
NM_003977.4(AIP):c.721A>T (p.Lys241Ter) rs267606573
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) rs267606574
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.854_857del (p.Gln285fs) rs267606582
NM_003977.4(AIP):c.987C>T (p.Ser329=) rs267606587
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) rs104895418
NM_004327.4(BCR):c.2707+21G>T rs527236142
NM_004327.4(BCR):c.2750T>A (p.Val917Asp) rs527236143
NM_004364.5(CEBPA):c.141del (p.Ala48fs) rs137852730
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs) rs2145264004
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser) rs1967196253
NM_004364.5(CEBPA):c.158del (p.Gly53fs) rs2145264074
NM_004364.5(CEBPA):c.189del (p.Asp63fs) rs2145263853
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs) rs2145263088
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro) rs2145258913
NM_004895.3:c.3006-45_3006-44del
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_005157.6(ABL1):c.949T>C (p.Phe317Leu) rs1057519773
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs) rs77672568
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu) rs79767407
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs) rs78705193
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser) rs515726139
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1503+1G>T rs515726142
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del) rs515726144
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg) rs769647986
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly) rs761864966
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1411+1G>A rs864309479
NM_030777.4(SLC2A10):c.1411+480_1547+299del
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) rs572620317
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val) rs864309480
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) rs864309481
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter) rs864309478
NM_030777.4(SLC2A10):c.961del (p.Val321fs) rs587776599
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) rs74876396
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup) rs78379807
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) rs78948846
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_144687.4(NLRP12):c.2468_2470delinsCTT (p.Leu823_Gly824delinsProCys) rs2091916523
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del) rs1553636502
NM_212482.4(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) rs1553659131

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