ClinVar Miner

List of variants in gene TSHR reported as likely benign for Familial hyperthyroidism due to mutations in TSH receptor

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_000369.5(TSHR):c.*1154dup rs3214569 0.85459
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00298
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu) rs141293178 0.00051
NM_000369.5(TSHR):c.1206C>T (p.Ser402=) rs150524100 0.00026
NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln) rs368452281 0.00004

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