ClinVar Miner

List of variants studied for hypothyroidism, congenital, nongoitrous by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_003466.4(PAX8):c.160A>T (p.Ser54Cys) rs104893660

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