ClinVar Miner

List of variants in gene THRB reported by GeneDx

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Total variants: 26
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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.1144+9G>A rs13063628 0.11332
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.-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.1076C>T (p.Ser359Phe) rs1553610936
NM_001354712.2(THRB):c.1145A>T (p.Asp382Val)
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.1336T>C (p.Cys446Arg) rs121918703
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) rs28933408
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.803C>G (p.Ala268Gly) rs750905761
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.994G>A (p.Gly332Arg) rs28999969

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