ClinVar Miner

List of variants reported as likely pathogenic for generalized resistance to thyroid hormone by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003466.4(PAX8):c.203C>T (p.Thr68Ile) rs1691155605
NM_003466.4(PAX8):c.236C>T (p.Ser79Phe) rs1691154033

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