ClinVar Miner

List of variants in gene TSHR reported as likely benign for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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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.*1813T>A rs58832257 0.02711
NM_000369.5(TSHR):c.*474G>T rs61266735 0.02495
NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys) rs61743974 0.01750
NM_000369.5(TSHR):c.*18C>A rs77789619 0.01748
NM_000369.5(TSHR):c.*1289A>G rs150122093 0.01236
NM_000369.5(TSHR):c.1377G>A (p.Ala459=) rs113951800

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