ClinVar Miner

List of variants in gene THRB studied for Thyroid hormone resistance, generalized, autosomal dominant

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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001354712.2(THRB):c.*4988T>C rs1349265 0.52355
NM_001354712.2(THRB):c.*1354A>G rs844107 0.45065
NM_001354712.2(THRB):c.*454T>G rs826374 0.22993
NM_001354712.2(THRB):c.*411A>G rs826375 0.22397
NM_001354712.2(THRB):c.*670A>G rs826372 0.21961
NM_001354712.2(THRB):c.*730G>C rs826371 0.21886
NM_001354712.2(THRB):c.*5367C>T rs2167116 0.19585
NM_001354712.2(THRB):c.*5728G>A rs17014136 0.18827
NM_001354712.2(THRB):c.*5684G>A rs75272640 0.13464
NM_001354712.2(THRB):c.*5352C>T rs56204436 0.11733
NM_001354712.2(THRB):c.*2882G>A rs79270057 0.11634
NM_001354712.2(THRB):c.1144+9G>A rs13063628 0.11332
NM_001354712.2(THRB):c.*2144G>C rs76054208 0.03256
NM_001354712.2(THRB):c.*4340G>A rs78543378 0.02551
NM_001354712.2(THRB):c.1251T>C (p.Phe417=) rs13081063 0.02498
NM_001354712.2(THRB):c.*361G>A rs111304854 0.01300
NM_001354712.2(THRB):c.*4796T>C rs139568686 0.00937
NM_001354712.2(THRB):c.*2316A>G rs113984059 0.00725
NM_001354712.2(THRB):c.*1104T>C rs79097039 0.00679
NM_001354712.2(THRB):c.*1049G>A rs147770624 0.00648
NM_001354712.2(THRB):c.*4975G>C rs146338850 0.00638
NM_001354712.2(THRB):c.*195C>T rs149091062 0.00610
NM_001354712.2(THRB):c.*1375C>T rs142386334 0.00598
NM_001354712.2(THRB):c.*3929G>A rs549973481 0.00508
NM_001354712.2(THRB):c.*1284A>C rs115153721 0.00494
NM_001354712.2(THRB):c.*1334C>T rs192044256 0.00443
NM_001354712.2(THRB):c.*5533G>A rs548437052 0.00415
NM_001354712.2(THRB):c.*2616T>G rs150170704 0.00360
NM_001354712.2(THRB):c.*1409T>C rs148766881 0.00355
NM_001354712.2(THRB):c.*4129C>G rs142926795 0.00333
NM_001354712.2(THRB):c.*1802G>A rs181974876 0.00242
NM_001354712.2(THRB):c.*2786G>T rs143575270 0.00207
NM_001354712.2(THRB):c.*468G>A rs190078914 0.00200
NM_001354712.2(THRB):c.*2912A>G rs116321631 0.00196
NM_001354712.2(THRB):c.*3459C>T rs554571353 0.00183
NM_001354712.2(THRB):c.*107G>C rs72619908 0.00170
NM_001354712.2(THRB):c.*227A>G rs544546433 0.00128
NM_001354712.2(THRB):c.*5429C>G rs141920435 0.00120
NM_001354712.2(THRB):c.*4762G>A rs567375785 0.00110
NM_001354712.2(THRB):c.*1561T>G rs367583791 0.00101
NM_001354712.2(THRB):c.*2534G>A rs530873073 0.00091
NM_001354712.2(THRB):c.*5262C>T rs550799208 0.00089
NM_001354712.2(THRB):c.*1372C>A rs147542176 0.00081
NM_001354712.2(THRB):c.*1302A>G rs181584465 0.00079
NM_001354712.2(THRB):c.*4055C>T rs575539914 0.00076
NM_001354712.2(THRB):c.*3017C>T rs144174027 0.00071
NM_001354712.2(THRB):c.*2346T>C rs570471899 0.00068
NM_001354712.2(THRB):c.*2347C>G rs558492958 0.00068
NM_001354712.2(THRB):c.*301G>A rs553434633 0.00068
NM_001354712.2(THRB):c.*3143T>C rs192001851 0.00062
NM_001354712.2(THRB):c.*3292G>A rs144912030 0.00056
NM_001354712.2(THRB):c.*5701A>T rs529651896 0.00051
NM_001354712.2(THRB):c.*5194A>G rs545003746 0.00045
NM_001354712.2(THRB):c.*3163A>G rs560923192 0.00034
NM_001354712.2(THRB):c.1125C>T (p.Ala375=) rs148991421 0.00033
NM_001354712.2(THRB):c.*1662T>C rs187291821 0.00030
NM_001354712.2(THRB):c.11A>G (p.Asn4Ser) rs114070375 0.00028
NM_001354712.2(THRB):c.-367G>A rs1026480434 0.00027
NM_001354712.2(THRB):c.1299C>T (p.Ala433=) rs144206187 0.00024
NM_001354712.2(THRB):c.*2105T>G rs138358071 0.00022
NM_001354712.2(THRB):c.*1959C>T rs149588565 0.00019
NM_001354712.2(THRB):c.-404T>C rs528311159 0.00019
NM_001354712.2(THRB):c.*4917G>A rs539558452 0.00018
NM_001354712.2(THRB):c.213C>A (p.Asp71Glu) rs141495471 0.00016
NM_001354712.2(THRB):c.*5257C>A rs577817279 0.00014
NM_001354712.2(THRB):c.*5386G>C rs947963207 0.00014
NM_001354712.2(THRB):c.*368C>T rs543041615 0.00013
NM_001354712.2(THRB):c.283+12T>C rs372413180 0.00013
NM_001354712.2(THRB):c.*4996T>C rs981440598 0.00011
NM_001354712.2(THRB):c.1053C>T (p.Asp351=) rs115445992 0.00011
NM_001354712.2(THRB):c.*3595G>C rs572325175 0.00010
NM_001354712.2(THRB):c.*3357C>G rs149846483 0.00009
NM_001354712.2(THRB):c.*4714T>C rs577889185 0.00009
NM_001354712.2(THRB):c.-261+5G>C rs770619537 0.00009
NM_001354712.2(THRB):c.68G>A (p.Arg23Gln) rs200124942 0.00009
NM_001354712.2(THRB):c.*5166G>C rs376751863 0.00008
NM_001354712.2(THRB):c.*3981C>T rs751368376 0.00007
NM_001354712.2(THRB):c.*1153C>G rs886058289 0.00006
NM_001354712.2(THRB):c.*2332G>A rs779322220 0.00006
NM_001354712.2(THRB):c.*4205A>G rs376819021 0.00006
NM_001354712.2(THRB):c.*5122A>C rs886058267 0.00006
NM_001354712.2(THRB):c.*5247T>A rs1016520908 0.00006
NM_001354712.2(THRB):c.*693G>A rs750865217 0.00006
NM_001354712.2(THRB):c.*1960G>A rs1440318270 0.00004
NM_001354712.2(THRB):c.*243G>A rs761568064 0.00004
NM_001354712.2(THRB):c.*3219G>A rs1208012177 0.00004
NM_001354712.2(THRB):c.-229C>T rs999070701 0.00004
NM_001354712.2(THRB):c.*1495G>A rs772529172 0.00003
NM_001354712.2(THRB):c.*2856C>T rs762935121 0.00003
NM_001354712.2(THRB):c.*3020G>T rs772300437 0.00003
NM_001354712.2(THRB):c.*3288C>T rs886058281 0.00003
NM_001354712.2(THRB):c.*3813G>A rs571340397 0.00003
NM_001354712.2(THRB):c.*4470T>C rs886058272 0.00003
NM_001354712.2(THRB):c.*4G>A rs777224982 0.00003
NM_001354712.2(THRB):c.*5295C>T rs752819506 0.00003
NM_001354712.2(THRB):c.126T>C (p.His42=) rs752303168 0.00003
NM_001354712.2(THRB):c.*1173A>C rs886058288 0.00002
NM_001354712.2(THRB):c.*1567C>G rs1473952500 0.00002
NM_001354712.2(THRB):c.*1861A>G rs529916834 0.00002
NM_001354712.2(THRB):c.*2030T>C rs886058285 0.00002
NM_001354712.2(THRB):c.*4927G>A rs371837190 0.00002
NM_001354712.2(THRB):c.*1443T>C rs985382537 0.00001
NM_001354712.2(THRB):c.*1582G>A rs1455770141 0.00001
NM_001354712.2(THRB):c.*1866T>C rs886058287 0.00001
NM_001354712.2(THRB):c.*1958G>A rs201231150 0.00001
NM_001354712.2(THRB):c.*2112T>C rs958617165 0.00001
NM_001354712.2(THRB):c.*2182T>C rs886058284 0.00001
NM_001354712.2(THRB):c.*2204C>G rs886058283 0.00001
NM_001354712.2(THRB):c.*2341C>T rs886058282 0.00001
NM_001354712.2(THRB):c.*2445A>G rs975462034 0.00001
NM_001354712.2(THRB):c.*2516A>G rs375476690 0.00001
NM_001354712.2(THRB):c.*2976G>A rs536523113 0.00001
NM_001354712.2(THRB):c.*3047A>G rs200103337 0.00001
NM_001354712.2(THRB):c.*3055G>A rs544177543 0.00001
NM_001354712.2(THRB):c.*3155G>A rs1035090874 0.00001
NM_001354712.2(THRB):c.*4189G>C rs575525867 0.00001
NM_001354712.2(THRB):c.*4434T>A rs1324834995 0.00001
NM_001354712.2(THRB):c.*4770G>A rs1037848055 0.00001
NM_001354712.2(THRB):c.*4824C>T rs534066448 0.00001
NM_001354712.2(THRB):c.*688T>C rs1434662315 0.00001
NM_001354712.2(THRB):c.-254G>A rs886058293 0.00001
NM_001354712.2(THRB):c.-261+65743G>A rs1054051271 0.00001
NM_001354712.2(THRB):c.-274G>T rs1698771648 0.00001
NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys) rs1354053223 0.00001
NM_001354712.2(THRB):c.1148G>A (p.Arg383His) rs121918708 0.00001
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln) rs1553609210 0.00001
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) rs367757240 0.00001
NM_001354712.2(THRB):c.1313G>A (p.Arg438His) rs121918698 0.00001
NM_001354712.2(THRB):c.1350C>T (p.Leu450=) rs1225965675 0.00001
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala) rs28933408 0.00001
NM_001354712.2(THRB):c.*1102G>A rs886058290
NM_001354712.2(THRB):c.*1658T>C rs2031628717
NM_001354712.2(THRB):c.*1905A>G rs886058286
NM_001354712.2(THRB):c.*196G>A rs374351873
NM_001354712.2(THRB):c.*2031A>G rs2031549617
NM_001354712.2(THRB):c.*2183C>T rs554969796
NM_001354712.2(THRB):c.*2632C>T rs2031435949
NM_001354712.2(THRB):c.*2637G>A rs184507648
NM_001354712.2(THRB):c.*2637G>T rs184507648
NM_001354712.2(THRB):c.*2907G>A rs1320799694
NM_001354712.2(THRB):c.*3572C>T rs886058280
NM_001354712.2(THRB):c.*3911C>A rs886058274
NM_001354712.2(THRB):c.*4033G>A rs151088155
NM_001354712.2(THRB):c.*4033G>C rs151088155
NM_001354712.2(THRB):c.*4544T>C rs1575210052
NM_001354712.2(THRB):c.*4920A>G rs886058268
NM_001354712.2(THRB):c.*5431T>A rs886058266
NM_001354712.2(THRB):c.*5571G>C rs1030565111
NM_001354712.2(THRB):c.*574G>C rs1266495433
NM_001354712.2(THRB):c.*602G>A rs826373
NM_001354712.2(THRB):c.*602G>C rs826373
NM_001354712.2(THRB):c.-258C>A rs886058294
NM_001354712.2(THRB):c.-393T>C rs886058296
NM_001354712.2(THRB):c.1010_1012del (p.Thr337del) rs387906515
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp) rs121918697
NM_001354712.2(THRB):c.1020G>C (p.Gln340His) rs121918688
NM_001354712.2(THRB):c.1021C>G (p.Leu341Val) rs1553610984
NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu) rs1553610974
NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser) rs121918686
NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg) rs121918686
NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys) rs121918686
NM_001354712.2(THRB):c.1034G>T (p.Gly345Val) rs28999970
NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu) rs28999971
NM_001354712.2(THRB):c.1078C>T (p.Leu360=) rs373131377
NM_001354712.2(THRB):c.1192A>C (p.Ser398Arg) rs1318079339
NM_001354712.2(THRB):c.1293A>G (p.Ile431Met) rs1553609195
NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter) rs121918705
NM_001354712.2(THRB):c.1305T>G (p.His435Gln) rs1553609185
NM_001354712.2(THRB):c.1312del (p.Arg438fs) rs1553609179
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer) rs1553609167
NM_001354712.2(THRB):c.1327A>G (p.Lys443Glu) rs121918692
NM_001354712.2(THRB):c.1336T>C (p.Cys446Arg) rs121918703
NM_001354712.2(THRB):c.1341dup (p.Thr448fs)
NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe) rs1553609152
NM_001354712.2(THRB):c.1351T>G (p.Phe451Val) rs1057519028
NM_001354712.2(THRB):c.1354C>A (p.Pro452Thr) rs2148780678
NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) rs28933408
NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser) rs28933408
NM_001354712.2(THRB):c.1357_1358delinsAA (p.Pro453Asn)
NM_001354712.2(THRB):c.1358C>A (p.Pro453His) rs121918687
NM_001354712.2(THRB):c.1358C>T (p.Pro453Leu)
NM_001354712.2(THRB):c.1358dup (p.Leu454fs) rs1553609119
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) rs1553609090
NM_001354712.2(THRB):c.182C>A (p.Thr61Asn) rs886058292
NM_001354712.2(THRB):c.743A>G (p.Glu248Gly) rs2034169050
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001354712.2(THRB):c.920G>A (p.Gly307Asp) rs1553611101
NM_001354712.2(THRB):c.928A>G (p.Met310Val) rs1553611094
NM_001354712.2(THRB):c.938T>C (p.Met313Thr) rs1553611083
NM_001354712.2(THRB):c.941C>T (p.Ser314Phe) rs1553611075
NM_001354712.2(THRB):c.947G>A (p.Arg316His) rs121918695
NM_001354712.2(THRB):c.949G>A (p.Ala317Thr) rs121918690
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001354712.2(THRB):c.977A>G (p.Glu326Gly) rs1060499695
NM_001354712.2(THRB):c.980C>A (p.Thr327Asn) rs1553611038
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969

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