ClinVar Miner

List of variants in gene THRB reported as benign for generalized resistance to thyroid hormone

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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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.*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.*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.*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.*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.*3163A>G rs560923192 0.00034
NM_001354712.2(THRB):c.*1662T>C rs187291821 0.00030
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.*4917G>A rs539558452 0.00018
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.*4205A>G rs376819021 0.00006
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.*4189G>C rs575525867 0.00001
NM_001354712.2(THRB):c.*4824C>T rs534066448 0.00001
NM_001354712.2(THRB):c.*2637G>T rs184507648
NM_001354712.2(THRB):c.*602G>C rs826373

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