ClinVar Miner

List of variants in gene THRB reported as uncertain significance for thyroid hormone resistance syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_001354712.2(THRB):c.*1802G>A rs181974876 0.00242
NM_001354712.2(THRB):c.*227A>G rs544546433 0.00128
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.*301G>A rs553434633 0.00068
NM_001354712.2(THRB):c.*5194A>G rs545003746 0.00045
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.-404T>C rs528311159 0.00019
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.*4996T>C rs981440598 0.00011
NM_001354712.2(THRB):c.-261+5G>C rs770619537 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.*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.*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.*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.*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.*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.1350C>T (p.Leu450=) rs1225965675 0.00001
NM_001354712.2(THRB):c.*1102G>A rs886058290
NM_001354712.2(THRB):c.*1658T>C rs2031628717
NM_001354712.2(THRB):c.*1776del 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.*2632C>T rs2031435949
NM_001354712.2(THRB):c.*2637G>A rs184507648
NM_001354712.2(THRB):c.*2907G>A rs1320799694
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.*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.*574G>C rs1266495433
NM_001354712.2(THRB):c.*602G>A rs826373
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.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.1354C>A (p.Pro452Thr) rs2148780678
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>A (p.Ala268Asp)
NM_001354712.2(THRB):c.920G>A (p.Gly307Asp) rs1553611101
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969

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