ClinVar Miner

List of variants reported as pathogenic for congenital hypothyroidism by Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter) rs2129311961
NM_000441.2(SLC26A4):c.918+1G>T rs111033245

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