ClinVar Miner

List of variants reported as likely pathogenic for Familial gestational hyperthyroidism; Familial hyperthyroidism due to mutations in TSH receptor; Hypothyroidism due to TSH receptor mutations by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573

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