ClinVar Miner

List of variants in gene combination LOC126806630, THRB reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001354712.2(THRB):c.727C>T (p.Arg243Trp) rs121918707 0.00001
NM_001354712.2(THRB):c.679_696dup (p.Glu227_Thr232dup) rs1553616532
NM_001354712.2(THRB):c.700G>C (p.Ala234Pro) rs121918694
NM_001354712.2(THRB):c.727C>G (p.Arg243Gly) rs121918707
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.737T>C (p.Leu246Pro) rs1553616482

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