ClinVar Miner

List of variants in gene THRB reported by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001354712.2(THRB):c.1251T>C (p.Phe417=) rs13081063 0.02498
NM_001354712.2(THRB):c.385-36T>C rs79187081 0.00826
NM_001354712.2(THRB):c.213C>A (p.Asp71Glu) rs141495471 0.00016
NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys) rs1354053223 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.1357C>G (p.Pro453Ala) rs28933408 0.00001
GRCh37/hg19 3p24.2(chr3:24332058-24456071)x1
GRCh37/hg19 3p24.2(chr3:24459954-24919200)x3
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.1022T>C (p.Leu341Pro) rs2033110557
NM_001354712.2(THRB):c.1028A>C (p.Asn343Thr) rs1559400861
NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser) rs121918686
NM_001354712.2(THRB):c.1034G>T (p.Gly345Val) rs28999970
NM_001354712.2(THRB):c.1039G>T (p.Gly347Trp)
NM_001354712.2(THRB):c.1045G>A (p.Val349Met)
NM_001354712.2(THRB):c.1061T>G (p.Phe354Cys) rs1559400596
NM_001354712.2(THRB):c.1147C>T (p.Arg383Cys) rs1559388949
NM_001354712.2(THRB):c.1154G>A (p.Gly385Glu) rs1553609297
NM_001354712.2(THRB):c.1287GAT[1] (p.Met430del) rs2031967126
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.1335A>T (p.Glu445Asp) rs1559387816
NM_001354712.2(THRB):c.1336T>G (p.Cys446Gly)
NM_001354712.2(THRB):c.1340C>T (p.Pro447Leu) rs865994135
NM_001354712.2(THRB):c.1345G>T (p.Glu449Ter) rs1553609157
NM_001354712.2(THRB):c.1351T>C (p.Phe451Leu) rs1057519028
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.1367T>C (p.Leu456Ser) rs1559387462
NM_001354712.2(THRB):c.1371A>C (p.Glu457Asp)
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.1377C>A (p.Phe459Leu) rs2031941762
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) rs1553609090
NM_001354712.2(THRB):c.749T>C (p.Ile250Thr) rs1559415720
NM_001354712.2(THRB):c.751G>C (p.Gly251Arg) rs1553613123
NM_001354712.2(THRB):c.790G>T (p.Val264Phe) rs1559415493
NM_001354712.2(THRB):c.803C>A (p.Ala268Asp)
NM_001354712.2(THRB):c.928A>T (p.Met310Leu) rs1553611094
NM_001354712.2(THRB):c.937A>G (p.Met313Val) rs1553611086
NM_001354712.2(THRB):c.938T>C (p.Met313Thr) rs1553611083
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.949G>T (p.Ala317Ser) rs121918690
NM_001354712.2(THRB):c.958C>A (p.Arg320Ser) rs121918696
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.962A>G (p.Tyr321Cys) rs1559401356
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001354712.2(THRB):c.997G>A (p.Glu333Lys) rs2148833747
NM_001354712.2(THRB):c.998A>G (p.Glu333Gly) rs1553611019

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