ClinVar Miner

List of variants in gene THRB reported by OMIM

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001354712.2(THRB):c.1148G>A (p.Arg383His) rs121918708 0.00001
NM_001354712.2(THRB):c.1313G>A (p.Arg438His) rs121918698 0.00001
L325F
NG_009159.1:g.(?_270821)_(382671_?)del
NM_001354712.2(THRB):c.1009A>G (p.Thr337Ala) rs121918709
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.1020G>C (p.Gln340His) rs121918688
NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser) rs121918686
NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg) rs121918686
NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp) rs28999970
NM_001354712.2(THRB):c.1034G>T (p.Gly345Val) rs28999970
NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu) rs28999971
NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter) rs121918705
NM_001354712.2(THRB):c.1305dup (p.Ala436fs)
NM_001354712.2(THRB):c.1312del (p.Arg438fs) rs1553609179
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.1327A>G (p.Lys443Glu) rs121918692
NM_001354712.2(THRB):c.1336T>C (p.Cys446Arg) rs121918703
NM_001354712.2(THRB):c.1341dup (p.Thr448fs)
NM_001354712.2(THRB):c.1349T>A (p.Leu450His) rs121918701
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) rs28933408
NM_001354712.2(THRB):c.1358C>A (p.Pro453His) rs121918687
NM_001354712.2(THRB):c.1361_1362insC (p.Leu454fs)
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.1376T>G (p.Phe459Cys) rs121918702
NM_001354712.2(THRB):c.929T>C (p.Met310Thr) rs121918699
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.958C>T (p.Arg320Cys) rs121918696
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001354712.2(THRB):c.959G>T (p.Arg320Leu) rs121918693
NM_001354712.2(THRB):c.964G>C (p.Asp322His) rs121918700
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969

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