ClinVar Miner

List of variants in gene THRB studied for not specified

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001354712.2(THRB):c.1144+9G>A rs13063628 0.11332
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.1299C>T (p.Ala433=) rs144206187 0.00024
NM_001354712.2(THRB):c.283+12T>C rs372413180 0.00013
NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys) rs1354053223 0.00001
NM_001354712.2(THRB):c.1313G>A (p.Arg438His) rs121918698 0.00001
GRCh37/hg19 3p24.2(chr3:24313946-24582895)x3
GRCh37/hg19 3p24.2(chr3:24459428-25169347)x3
NM_001354712.2(THRB):c.1013G>A (p.Arg338Gln)
NM_001354712.2(THRB):c.1154G>A (p.Gly385Glu) rs1553609297
NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)
NM_001354712.2(THRB):c.1357_1358delinsGA (p.Pro453Asp) rs2148780504
NM_001354712.2(THRB):c.22+16del rs754042345
NM_001354712.2(THRB):c.22+4T>A rs1031696535
NM_001354712.2(THRB):c.23-19G>A
NM_001354712.2(THRB):c.929T>C (p.Met310Thr) rs121918699
NM_001354712.2(THRB):c.937A>G (p.Met313Val) rs1553611086
NM_001354712.2(THRB):c.958C>A (p.Arg320Ser) rs121918696
NM_001354712.2(THRB):c.980C>T (p.Thr327Ile)
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001354712.2(THRB):c.998A>G (p.Glu333Gly) rs1553611019

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