ClinVar Miner

List of variants in gene THRB reported as pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 25
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HGVS dbSNP gnomAD frequency
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
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp) rs121918697
NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu) rs1553610974
NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg) rs121918686
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.1305T>G (p.His435Gln) rs1553609185
NM_001354712.2(THRB):c.1312del (p.Arg438fs) rs1553609179
NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe) rs1553609152
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.1358dup (p.Leu454fs) rs1553609119
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) rs1553609090
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001354712.2(THRB):c.928A>G (p.Met310Val) rs1553611094
NM_001354712.2(THRB):c.938T>C (p.Met313Thr) rs1553611083
NM_001354712.2(THRB):c.941C>T (p.Ser314Phe) rs1553611075
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.980C>A (p.Thr327Asn) rs1553611038

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