ClinVar Miner

List of variants studied for thyroid hormone resistance syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 272
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003466.4(PAX8):c.*2309A>G rs1077855 0.75160
NM_001354712.2(THRB):c.*4988T>C rs1349265 0.52355
NM_001354712.2(THRB):c.*1354A>G rs844107 0.45065
NM_003466.4(PAX8):c.*2478C>T rs2019137 0.41441
NM_003466.4(PAX8):c.*2146A>G rs895412 0.41369
NM_003466.4(PAX8):c.*1914C>G rs874898 0.32930
NM_003466.4(PAX8):c.*1006A>C rs1479 0.29017
NM_003466.4(PAX8):c.*1044A>C rs1478 0.28084
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_003466.4(PAX8):c.*1000T>C rs1049137 0.18892
NM_001354712.2(THRB):c.*5728G>A rs17014136 0.18827
NM_001354712.2(THRB):c.735C>T (p.Phe245=) rs3752874 0.14868
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_003466.4(PAX8):c.*187A>G rs78802229 0.05117
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_003466.4(PAX8):c.*627T>A rs111411733 0.01952
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_001354712.2(THRB):c.*4611del rs147687234 0.01502
NM_001354712.2(THRB):c.*361G>A rs111304854 0.01300
NM_003466.4(PAX8):c.*1765G>A rs144041400 0.01281
NM_001354712.2(THRB):c.*4796T>C rs139568686 0.00937
NM_001354712.2(THRB):c.*2316A>G rs113984059 0.00725
NM_003466.4(PAX8):c.479-6C>T rs76792774 0.00703
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_003466.4(PAX8):c.1087+4C>T rs111481416 0.00545
NM_003466.4(PAX8):c.1143C>T (p.Ser381=) rs145036350 0.00516
NM_001354712.2(THRB):c.*3929G>A rs549973481 0.00508
NM_001354712.2(THRB):c.*1284A>C rs115153721 0.00494
NM_003466.4(PAX8):c.*1807C>G rs138533336 0.00464
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_003466.4(PAX8):c.1317A>G (p.Ala439=) rs368201100 0.00299
NM_003466.4(PAX8):c.885C>T (p.Tyr295=) rs112872760 0.00293
NM_003466.4(PAX8):c.1189+15G>A rs149585280 0.00262
NM_001354712.2(THRB):c.*1802G>A rs181974876 0.00242
NM_003466.4(PAX8):c.*703G>A rs141475261 0.00233
NM_003466.4(PAX8):c.*1457G>A rs532372672 0.00208
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_003466.4(PAX8):c.404A>G (p.Lys135Arg) rs190431939 0.00146
NM_003466.4(PAX8):c.*2276G>A rs189067014 0.00135
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_003466.4(PAX8):c.*204C>A rs575199444 0.00086
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_003466.4(PAX8):c.129G>A (p.Arg43=) rs75444177 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_003466.4(PAX8):c.*2368C>T rs150097052 0.00065
NM_001354712.2(THRB):c.*3143T>C rs192001851 0.00062
NM_003466.4(PAX8):c.*2320G>A rs138391311 0.00061
NM_001354712.2(THRB):c.*3292G>A rs144912030 0.00056
NM_003466.4(PAX8):c.*2044G>C rs143820836 0.00054
NM_001354712.2(THRB):c.*5701A>T rs529651896 0.00051
NM_003466.4(PAX8):c.*844C>T rs183711194 0.00048
NM_003466.4(PAX8):c.*1066G>A rs147293224 0.00047
NM_003466.4(PAX8):c.*845G>A rs536050658 0.00047
NM_001354712.2(THRB):c.*5194A>G rs545003746 0.00045
NM_003466.4(PAX8):c.*1029G>A rs527418580 0.00043
NM_003466.4(PAX8):c.*938C>G rs886054788 0.00041
NM_003466.4(PAX8):c.*2475C>T rs551249311 0.00038
NM_001354712.2(THRB):c.*3163A>G rs560923192 0.00034
NM_001354712.2(THRB):c.1125C>T (p.Ala375=) rs148991421 0.00033
NM_003466.4(PAX8):c.*897C>T rs745424024 0.00031
NM_001354712.2(THRB):c.*1662T>C rs187291821 0.00030
NM_003466.4(PAX8):c.1227C>G (p.Pro409=) rs190681011 0.00030
NM_003466.4(PAX8):c.1242C>T (p.Ser414=) rs200817352 0.00029
NM_001354712.2(THRB):c.11A>G (p.Asn4Ser) rs114070375 0.00028
NM_003466.4(PAX8):c.*501C>T rs573072931 0.00028
NM_001354712.2(THRB):c.-367G>A rs1026480434 0.00027
NM_003466.4(PAX8):c.1116C>T (p.Pro372=) rs189229644 0.00026
NM_003466.4(PAX8):c.*708C>T rs768371093 0.00025
NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala) rs199939219 0.00025
NM_001354712.2(THRB):c.1299C>T (p.Ala433=) rs144206187 0.00024
NM_003466.4(PAX8):c.700G>A (p.Glu234Lys) rs201093713 0.00024
NM_003466.4(PAX8):c.-63C>A rs866836744 0.00023
NM_001354712.2(THRB):c.*2105T>G rs138358071 0.00022
NM_003466.4(PAX8):c.*2193G>A rs148816725 0.00021
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_003466.4(PAX8):c.898+11C>T rs377714129 0.00015
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_003466.4(PAX8):c.1150G>A (p.Gly384Ser) rs199820445 0.00013
NM_003466.4(PAX8):c.*664T>C rs868036257 0.00012
NM_003466.4(PAX8):c.346G>A (p.Val116Ile) rs764623767 0.00012
NM_003466.4(PAX8):c.981C>T (p.Ser327=) rs552812059 0.00012
NM_001354712.2(THRB):c.*4996T>C rs981440598 0.00011
NM_001354712.2(THRB):c.1053C>T (p.Asp351=) rs115445992 0.00011
NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly) rs199844947 0.00011
NM_001354712.2(THRB):c.*3595G>C rs572325175 0.00010
NM_001354712.2(THRB):c.648C>T (p.Asp216=) rs143993214 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_003466.4(PAX8):c.324A>T (p.Arg108=) rs967278406 0.00008
NM_001354712.2(THRB):c.*3981C>T rs751368376 0.00007
NM_003466.4(PAX8):c.*372C>T rs538590834 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_003466.4(PAX8):c.*423C>T rs774457240 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 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.693G>A (p.Ala231=) rs115360190 0.00004
NM_003466.4(PAX8):c.*2192C>T rs886054785 0.00004
NM_003466.4(PAX8):c.*2312G>A rs886054784 0.00004
NM_003466.4(PAX8):c.602G>A (p.Ser201Asn) rs202183277 0.00004
NM_003466.4(PAX8):c.817G>A (p.Asp273Asn) rs757960433 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.*5295C>T rs752819506 0.00003
NM_001354712.2(THRB):c.126T>C (p.His42=) rs752303168 0.00003
NM_001354712.2(THRB):c.649G>A (p.Glu217Lys) rs368681026 0.00003
NM_003466.4(PAX8):c.*2033C>T rs531249238 0.00003
NM_003466.4(PAX8):c.81G>A (p.Pro27=) rs372324872 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_003466.4(PAX8):c.*789G>A rs886054789 0.00002
NM_003466.4(PAX8):c.1185G>A (p.Val395=) rs886054792 0.00002
NM_003466.4(PAX8):c.1275G>A (p.Leu425=) rs368814338 0.00002
NM_003466.4(PAX8):c.473C>T (p.Thr158Met) rs727504066 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.*4477del rs886058271 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.-274G>T rs1698771648 0.00001
NM_001354712.2(THRB):c.1350C>T (p.Leu450=) rs1225965675 0.00001
NM_003466.4(PAX8):c.*1977T>C rs886054786 0.00001
NM_003466.4(PAX8):c.*2326A>G rs886054783 0.00001
NM_003466.4(PAX8):c.*2409C>T rs886054782 0.00001
NM_003466.4(PAX8):c.*368G>C rs886054791 0.00001
NM_003466.4(PAX8):c.*697C>T rs1259968544 0.00001
NM_003466.4(PAX8):c.1060C>G (p.Gln354Glu) rs776082182 0.00001
NM_003466.4(PAX8):c.297C>T (p.Asn99=) rs762019177 0.00001
NM_003466.4(PAX8):c.441C>T (p.Cys147=) rs540878126 0.00001
NM_003466.4(PAX8):c.501C>A (p.Pro167=) rs61730086 0.00001
NM_003466.4(PAX8):c.5C>T (p.Pro2Leu) rs886054794 0.00001
NM_003466.4(PAX8):c.898+12G>A rs373810250 0.00001
NM_001354712.2(THRB):c.*1102G>A rs886058290
NM_001354712.2(THRB):c.*1658T>C rs2031628717
NM_001354712.2(THRB):c.*1750del rs147125300
NM_001354712.2(THRB):c.*1776del rs536659624
NM_001354712.2(THRB):c.*1776dup rs536659624
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.*2572ATTG[3] rs144580659
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.*2661del rs139700964
NM_001354712.2(THRB):c.*2907G>A rs1320799694
NM_001354712.2(THRB):c.*3324dup rs35554555
NM_001354712.2(THRB):c.*3572C>T rs886058280
NM_001354712.2(THRB):c.*3879del rs886058279
NM_001354712.2(THRB):c.*3880_*3885del rs886058277
NM_001354712.2(THRB):c.*3880del rs886058278
NM_001354712.2(THRB):c.*3905_*3910del rs559325556
NM_001354712.2(THRB):c.*3906_*3910del rs559325556
NM_001354712.2(THRB):c.*3906_*3910dup rs559325556
NM_001354712.2(THRB):c.*3909_*3910dup rs559325556
NM_001354712.2(THRB):c.*3910del rs559325556
NM_001354712.2(THRB):c.*3910dup rs559325556
NM_001354712.2(THRB):c.*3911C>A rs886058274
NM_001354712.2(THRB):c.*3915del rs886058273
NM_001354712.2(THRB):c.*4033G>A rs151088155
NM_001354712.2(THRB):c.*4033G>C rs151088155
NM_001354712.2(THRB):c.*4541dup rs886058270
NM_001354712.2(THRB):c.*4544T>C rs1575210052
NM_001354712.2(THRB):c.*4595_*4596del rs886058269
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.*570dup rs569875966
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.*900del rs373141874
NM_001354712.2(THRB):c.*983TCT[2] rs886058291
NM_001354712.2(THRB):c.-258C>A rs886058294
NM_001354712.2(THRB):c.-385GA[1] rs886058295
NM_001354712.2(THRB):c.-393T>C rs886058296
NM_001354712.2(THRB):c.-42-14dup rs3836253
NM_001354712.2(THRB):c.1078C>T (p.Leu360=) rs373131377
NM_001354712.2(THRB):c.182C>A (p.Thr61Asn) rs886058292
NM_001354712.2(THRB):c.743A>G (p.Glu248Gly) rs2034169050
NM_003466.4(PAX8):c.*1060C>G rs1689067483
NM_003466.4(PAX8):c.*1186G>C rs937780091
NM_003466.4(PAX8):c.*1393A>G rs886054787
NM_003466.4(PAX8):c.*1490G>A rs773369036
NM_003466.4(PAX8):c.*1942C>T rs932801565
NM_003466.4(PAX8):c.*2231C>T rs888850438
NM_003466.4(PAX8):c.*2517C>T rs886054781
NM_003466.4(PAX8):c.*2527A>G rs886054780
NM_003466.4(PAX8):c.*290G>A rs144113497
NM_003466.4(PAX8):c.*343G>A rs182231841
NM_003466.4(PAX8):c.*472C>T rs149552415
NM_003466.4(PAX8):c.*527G>A rs1024776806
NM_003466.4(PAX8):c.*612G>A rs773276491
NM_003466.4(PAX8):c.*764C>T rs886054790
NM_003466.4(PAX8):c.*766C>T rs1689075892
NM_003466.4(PAX8):c.-75-4G>T rs1693988335
NM_003466.4(PAX8):c.191+6C>G rs1691352861
NM_003466.4(PAX8):c.205G>A (p.Gly69Ser)
NM_003466.4(PAX8):c.280G>A (p.Asp94Asn) rs1573469745
NM_003466.4(PAX8):c.704C>T (p.Pro235Leu) rs200737496
NM_003466.4(PAX8):c.858G>T (p.Gly286=) rs886054793

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