ClinVar Miner

List of variants studied for hypothyroidism, congenital, nongoitrous by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.1574T>C (p.Phe525Ser) rs200138601 0.00006
NM_000369.5(TSHR):c.1552G>T (p.Glu518Ter)
NM_199334.5(THRA):c.1141C>T (p.His381Tyr)
NM_199334.5(THRA):c.1207G>A (p.Glu403Lys) rs876657395

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