ClinVar Miner

List of variants in gene IL1RN studied for connective tissue disorder

Included ClinVar conditions (370):
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Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_173842.3(IL1RN):c.390T>C (p.Ser130=) rs315952 0.34551
NM_173842.3(IL1RN):c.*138C>G rs315951 0.34373
NM_173842.3(IL1RN):c.*964G>A rs9005 0.28345
NM_173842.3(IL1RN):c.171T>C (p.Ala57=) rs419598 0.21244
NM_173841.3(IL1RN):c.73+8A>C rs878972 0.20572
NM_173841.3(IL1RN):c.-12G>C rs2234679 0.20534
NM_173841.3(IL1RN):c.-31A>G rs2234678 0.20530
NM_173842.3(IL1RN):c.205+242C>T rs2071459 0.17798
NM_173842.3(IL1RN):c.*162C>T rs4252041 0.02647
NM_173842.3(IL1RN):c.*311G>A rs4252028 0.01661
NM_173842.3(IL1RN):c.*310T>C rs4252027 0.01657
NM_173842.3(IL1RN):c.459C>T (p.Asp153=) rs4252023 0.01650
NM_173842.3(IL1RN):c.116+5G>A rs4252004 0.01392
NM_173842.3(IL1RN):c.*537G>A rs41294742 0.01363
NM_173841.2(IL1RN):c.-83G>A rs45526933 0.00580
NM_173842.3(IL1RN):c.465C>T (p.Pro155=) rs2232355 0.00435
NM_173842.3(IL1RN):c.318+19T>G rs4252017 0.00111
NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr) rs45507693 0.00097
NM_173842.3(IL1RN):c.*644del rs757094565 0.00089
NM_173841.3(IL1RN):c.73+19C>T rs370592421 0.00073
NM_173842.3(IL1RN):c.237T>C (p.His79=) rs140088036 0.00073
NM_173842.3(IL1RN):c.69G>A (p.Thr23=) rs2232353 0.00055
NM_173842.3(IL1RN):c.*119C>T rs377302236 0.00033
NM_173842.3(IL1RN):c.*382C>T rs45566534 0.00032
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe) rs201638660 0.00025
NM_173842.3(IL1RN):c.117-9C>T rs373136455 0.00021
NM_173841.2(IL1RN):c.-71A>G rs748164399 0.00016
NM_173841.2(IL1RN):c.*1156T>C rs140343304 0.00015
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys) rs114929884 0.00011
NM_173842.3(IL1RN):c.379C>T (p.Arg127Cys) rs148520303 0.00010
NM_173842.3(IL1RN):c.496G>A (p.Val166Ile) rs143208167 0.00010
NM_173842.3(IL1RN):c.*605T>C rs965074033 0.00009
NM_173842.3(IL1RN):c.476C>T (p.Thr159Ile) rs550154177 0.00009
NM_173842.3(IL1RN):c.*75C>G rs4252026 0.00008
NM_173841.2(IL1RN):c.-95C>G rs1458187927 0.00007
NM_173842.3(IL1RN):c.116+15A>G rs138621002 0.00006
NM_173841.3(IL1RN):c.58A>C (p.Asn20His) rs369994270 0.00005
NM_173842.3(IL1RN):c.418G>A (p.Ala140Thr) rs565499594 0.00005
NM_173842.3(IL1RN):c.447G>A (p.Ala149=) rs111516567 0.00005
NM_173842.3(IL1RN):c.*1039C>T rs559281814 0.00004
NM_173842.3(IL1RN):c.*958C>T rs370000982 0.00004
NM_173842.3(IL1RN):c.206-11T>C rs372847811 0.00004
NM_173842.3(IL1RN):c.318+17G>A rs373621697 0.00004
NM_173842.3(IL1RN):c.495C>T (p.Gly165=) rs368843442 0.00004
NM_173842.3(IL1RN):c.68C>T (p.Thr23Met) rs55860727 0.00004
NM_173841.3(IL1RN):c.28G>C (p.Gly10Arg) rs770976676 0.00003
NM_173842.3(IL1RN):c.241C>G (p.Leu81Val) rs374268790 0.00003
NM_173842.3(IL1RN):c.374T>G (p.Phe125Cys) rs1253995385 0.00003
NM_173842.3(IL1RN):c.414T>C (p.Ser138=) rs146491054 0.00003
NM_173842.3(IL1RN):c.427G>A (p.Gly143Ser) rs143317628 0.00003
NM_173842.3(IL1RN):c.489C>T (p.Asp163=) rs371472986 0.00003
NM_173842.3(IL1RN):c.79C>T (p.Pro27Ser) rs747206860 0.00003
NM_173841.3(IL1RN):c.20A>G (p.Tyr7Cys) rs137932510 0.00002
NM_173841.3(IL1RN):c.26A>T (p.Glu9Val) rs749244809 0.00002
NM_173842.3(IL1RN):c.*303C>G rs766555019 0.00002
NM_173842.3(IL1RN):c.219G>A (p.Val73=) rs767496834 0.00002
NM_173842.3(IL1RN):c.259G>A (p.Gly87Arg) rs748958762 0.00002
NM_173842.3(IL1RN):c.261A>G (p.Gly87=) rs770774243 0.00002
NM_173842.3(IL1RN):c.267G>C (p.Lys89Asn) rs138332136 0.00002
NM_173842.3(IL1RN):c.319-17C>T rs200314326 0.00002
NM_173842.3(IL1RN):c.364C>T (p.Arg122Cys) rs114004306 0.00002
NM_173842.3(IL1RN):c.449T>C (p.Met150Thr) rs781018527 0.00002
NM_173842.3(IL1RN):c.486T>C (p.Pro162=) rs772299998 0.00002
NM_173842.3(IL1RN):c.63A>G (p.Ser21=) rs763872895 0.00002
NM_173841.3(IL1RN):c.11-16A>C rs747837384 0.00001
NM_173841.3(IL1RN):c.66C>T (p.Asp22=) rs760885026 0.00001
NM_173841.3(IL1RN):c.73+10T>C rs745408148 0.00001
NM_173842.3(IL1RN):c.*1040G>A rs886054777 0.00001
NM_173842.3(IL1RN):c.*130C>T rs541642811 0.00001
NM_173842.3(IL1RN):c.*165C>T rs886054773 0.00001
NM_173842.3(IL1RN):c.*245G>A rs886054774 0.00001
NM_173842.3(IL1RN):c.*601C>G rs572782935 0.00001
NM_173842.3(IL1RN):c.108A>G (p.Gln36=) rs144691672 0.00001
NM_173842.3(IL1RN):c.156C>T (p.Asn52=) rs1022748861 0.00001
NM_173842.3(IL1RN):c.169G>T (p.Ala57Ser) rs777996358 0.00001
NM_173842.3(IL1RN):c.186A>G (p.Gly62=) rs545976021 0.00001
NM_173842.3(IL1RN):c.192T>C (p.Asn64=) rs146473306 0.00001
NM_173842.3(IL1RN):c.197A>G (p.Asn66Ser) rs761355602 0.00001
NM_173842.3(IL1RN):c.206-4C>G rs759542463 0.00001
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr) rs1202378531 0.00001
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NM_173842.3(IL1RN):c.298G>A (p.Glu100Lys) rs764209607 0.00001
NM_173842.3(IL1RN):c.305G>C (p.Arg102Thr) rs371848779 0.00001
NM_173842.3(IL1RN):c.336C>T (p.Asp112=) rs751937390 0.00001
NM_173842.3(IL1RN):c.342C>T (p.Ser114=) rs368859169 0.00001
NM_173842.3(IL1RN):c.343G>A (p.Glu115Lys) rs767854418 0.00001
NM_173842.3(IL1RN):c.366C>T (p.Arg122=) rs139208403 0.00001
NM_173842.3(IL1RN):c.388A>G (p.Ser130Gly) rs1687216601 0.00001
NM_173842.3(IL1RN):c.417C>T (p.Ala139=) rs55640833 0.00001
NM_173842.3(IL1RN):c.423C>T (p.Cys141=) rs753224633 0.00001
NM_173842.3(IL1RN):c.426C>T (p.Pro142=) rs761311365 0.00001
NM_173842.3(IL1RN):c.446C>T (p.Ala149Val) rs374276440 0.00001
NM_173842.3(IL1RN):c.466G>A (p.Val156Ile) rs56115412 0.00001
NM_173842.3(IL1RN):c.490G>A (p.Glu164Lys) rs188868709 0.00001
NM_173842.3(IL1RN):c.528C>T (p.Asp176=) rs192597507 0.00001
NM_173842.3(IL1RN):c.99C>G (p.Ser33Arg) rs573468124 0.00001
NC_000002.11:g.(?_113875596)_(113890448_?)dup
NC_000002.11:g.(?_113877623)_(113877725_?)del
NC_000002.12:g.(?_113116893)_(113135016_?)del
NC_000002.12:g.112960554_113135775del
NM_173841.2(IL1RN):c.*1145A>G rs886054779
NM_173841.2(IL1RN):c.-87G>A rs2234677
NM_173841.3(IL1RN):c.10+11T>C
NM_173841.3(IL1RN):c.10+14A>C
NM_173841.3(IL1RN):c.10+18dup
NM_173841.3(IL1RN):c.10+2T>C rs2104433206
NM_173841.3(IL1RN):c.10+4A>G
NM_173841.3(IL1RN):c.11-17C>T
NM_173841.3(IL1RN):c.16T>G (p.Leu6Val) rs1686715665
NM_173841.3(IL1RN):c.18G>T (p.Leu6Phe)
NM_173841.3(IL1RN):c.19T>C (p.Tyr7His) rs2104437414
NM_173841.3(IL1RN):c.25G>T (p.Glu9Ter)
NM_173841.3(IL1RN):c.44G>A (p.Gly15Glu) rs1573288353
NM_173841.3(IL1RN):c.48A>G (p.Glu16=) rs2104437489
NM_173841.3(IL1RN):c.4G>A (p.Ala2Thr) rs1226009223
NM_173841.3(IL1RN):c.4G>T (p.Ala2Ser)
NM_173841.3(IL1RN):c.52G>T (p.Glu18Ter)
NM_173841.3(IL1RN):c.73+18T>C
NM_173842.3(IL1RN):c.*1049A>G rs886054778
NM_173842.3(IL1RN):c.*1070T>G rs1687262003
NM_173842.3(IL1RN):c.*290T>A rs1687235105
NM_173842.3(IL1RN):c.*350C>G rs1687237466
NM_173842.3(IL1RN):c.*369T>A rs886054775
NM_173842.3(IL1RN):c.*490del rs565976240
NM_173842.3(IL1RN):c.*691del rs4252029
NM_173842.3(IL1RN):c.109G>T (p.Ala37Ser) rs1573301763
NM_173842.3(IL1RN):c.111C>T (p.Ala37=)
NM_173842.3(IL1RN):c.114C>T (p.Phe38=)
NM_173842.3(IL1RN):c.116+10C>A
NM_173842.3(IL1RN):c.116+13C>T
NM_173842.3(IL1RN):c.117-17G>C
NM_173842.3(IL1RN):c.117-18A>C
NM_173842.3(IL1RN):c.133C>T (p.Gln45Ter)
NM_173842.3(IL1RN):c.141C>G (p.Thr47=) rs2104455713
NM_173842.3(IL1RN):c.145T>C (p.Tyr49His)
NM_173842.3(IL1RN):c.156_157del (p.Asn52fs) rs672601268
NM_173842.3(IL1RN):c.159C>T (p.Asn53=)
NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter) rs121913162
NM_173842.3(IL1RN):c.166G>A (p.Val56Ile) rs557348234
NM_173842.3(IL1RN):c.173G>T (p.Gly58Val) rs1281227831
NM_173842.3(IL1RN):c.185G>A (p.Gly62Glu) rs1203011392
NM_173842.3(IL1RN):c.205+15G>A
NM_173842.3(IL1RN):c.205+8G>A rs762763281
NM_173842.3(IL1RN):c.206-16del
NM_173842.3(IL1RN):c.207A>G (p.Glu69=) rs1274769729
NM_173842.3(IL1RN):c.210G>T (p.Lys70Asn) rs2104458628
NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del) rs1340890598
NM_173842.3(IL1RN):c.220G>A (p.Val74Ile) rs775303057
NM_173842.3(IL1RN):c.243G>A (p.Leu81=) rs1457547311
NM_173842.3(IL1RN):c.245T>A (p.Phe82Tyr) rs1553469985
NM_173842.3(IL1RN):c.249G>A (p.Leu83=) rs1292754474
NM_173842.3(IL1RN):c.258T>C (p.His86=)
NM_173842.3(IL1RN):c.274C>T (p.Leu92=)
NM_173842.3(IL1RN):c.288G>A (p.Lys96=) rs1442053811
NM_173842.3(IL1RN):c.300G>A (p.Glu100=) rs776628808
NM_173842.3(IL1RN):c.306_312del (p.Arg102fs)
NM_173842.3(IL1RN):c.315G>A (p.Leu105=)
NM_173842.3(IL1RN):c.318+12C>G rs561872655
NM_173842.3(IL1RN):c.318+3A>G rs201701192
NM_173842.3(IL1RN):c.318+9A>T rs758726151
NM_173842.3(IL1RN):c.319-12T>C
NM_173842.3(IL1RN):c.319-16_319-12del rs2104462201
NM_173842.3(IL1RN):c.319-20G>T
NM_173842.3(IL1RN):c.331dup (p.Thr111fs) rs1687213897
NM_173842.3(IL1RN):c.337C>T (p.Leu113=)
NM_173842.3(IL1RN):c.369C>T (p.Phe123=)
NM_173842.3(IL1RN):c.377T>C (p.Ile126Thr) rs1483517191
NM_173842.3(IL1RN):c.380G>A (p.Arg127His)
NM_173842.3(IL1RN):c.380G>T (p.Arg127Leu) rs780956028
NM_173842.3(IL1RN):c.384A>T (p.Ser128=) rs202172114
NM_173842.3(IL1RN):c.386_389del (p.Asp129fs) rs2104462417
NM_173842.3(IL1RN):c.390_391inv (p.Gly131Ser)
NM_173842.3(IL1RN):c.391G>T (p.Gly131Cys) rs1687217114
NM_173842.3(IL1RN):c.396C>G (p.Pro132=)
NM_173842.3(IL1RN):c.422G>C (p.Cys141Ser) rs2104462545
NM_173842.3(IL1RN):c.426C>G (p.Pro142=) rs761311365
NM_173842.3(IL1RN):c.444A>G (p.Thr148=)
NM_173842.3(IL1RN):c.450G>A (p.Met150Ile) rs1453476284
NM_173842.3(IL1RN):c.500T>A (p.Met167Lys) rs765957403
NM_173842.3(IL1RN):c.519C>T (p.Phe173=)
NM_173842.3(IL1RN):c.526G>A (p.Asp176Asn) rs1191497599
NM_173842.3(IL1RN):c.526G>T (p.Asp176Tyr) rs1191497599
NM_173842.3(IL1RN):c.534G>A (p.Ter178=)
NM_173842.3(IL1RN):c.57C>G (p.Phe19Leu)
NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln) rs758363942
NM_173842.3(IL1RN):c.97A>G (p.Ser33Gly)

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