ClinVar Miner

List of variants studied for hypothyroidism, congenital, nongoitrous by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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.1556G>A (p.Arg519His) rs780018604 0.00004
NM_003466.4(PAX8):c.591A>C (p.Lys197Asn)
NM_007344.4(TTF1):c.1987+1G>C

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