ClinVar Miner

List of variants in gene THRB studied for not provided

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001354712.2(THRB):c.885+321A>G rs826381 0.56717
NM_001354712.2(THRB):c.886-245G>A rs1868573 0.36365
NM_001354712.2(THRB):c.22+312T>G rs7632681 0.29347
NM_001354712.2(THRB):c.886-65T>A rs2278802 0.16293
NM_001354712.2(THRB):c.1251T>C (p.Phe417=) rs13081063 0.02498
NM_001354712.2(THRB):c.532+8G>C rs146617205 0.00116
NM_001354712.2(THRB):c.52A>C (p.Lys18Gln) rs141960389 0.00076
NM_001354712.2(THRB):c.1125C>T (p.Ala375=) rs148991421 0.00033
NM_001354712.2(THRB):c.162G>A (p.Ser54=) rs79220627 0.00033
NM_001354712.2(THRB):c.11A>G (p.Asn4Ser) rs114070375 0.00028
NM_001354712.2(THRB):c.161C>T (p.Ser54Leu) rs141731067 0.00018
NM_001354712.2(THRB):c.159G>C (p.Gln53His) rs567722846 0.00016
NM_001354712.2(THRB):c.213C>A (p.Asp71Glu) rs141495471 0.00016
NM_001354712.2(THRB):c.40T>C (p.Trp14Arg) rs777353759 0.00007
NM_001354712.2(THRB):c.144G>A (p.Thr48=) rs138865141 0.00005
NM_001354712.2(THRB):c.1145-5C>T rs528832730 0.00004
NM_001354712.2(THRB):c.129A>T (p.Ser43=) rs112913751 0.00004
NM_001354712.2(THRB):c.175A>G (p.Ile59Val) rs141172732 0.00003
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
NM_001354712.2(THRB):c.75C>T (p.His25=) rs760778175 0.00001
GRCh37/hg19 3p24.2(chr3:24332058-24456071)x1
GRCh37/hg19 3p24.2(chr3:24459954-24919200)x3
GRCh37/hg19 3p24.2(chr3:24500702-24615559)x3
NM_001354712.2(THRB):c.-42-241G>C rs1965855
NM_001354712.2(THRB):c.-42-242C>A rs1965854
NM_001354712.2(THRB):c.-42-304T>C rs1466122
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.1076C>T (p.Ser359Phe) rs1553610936
NM_001354712.2(THRB):c.1145A>T (p.Asp382Val)
NM_001354712.2(THRB):c.1147C>T (p.Arg383Cys) rs1559388949
NM_001354712.2(THRB):c.1287GAT[1] (p.Met430del) rs2031967126
NM_001354712.2(THRB):c.1292T>C (p.Ile431Thr)
NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter) rs121918705
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>C (p.Cys446Arg) rs121918703
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.1A>G (p.Met1Val) rs886044192
NM_001354712.2(THRB):c.22+4T>A rs1031696535
NM_001354712.2(THRB):c.284-12625C>G
NM_001354712.2(THRB):c.364A>G (p.Ile122Val) rs2149103720
NM_001354712.2(THRB):c.67C>T (p.Arg23Ter) rs886043743
NM_001354712.2(THRB):c.739-259CT[11] rs10652016
NM_001354712.2(THRB):c.739-259CT[15] rs10652016
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.803C>G (p.Ala268Gly) rs750905761
NM_001354712.2(THRB):c.830C>T (p.Thr277Ile) rs2148894604
NM_001354712.2(THRB):c.917A>C (p.Lys306Thr) rs2148834585
NM_001354712.2(THRB):c.928A>T (p.Met310Leu) rs1553611094
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

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