ClinVar Miner

List of variants reported as pathogenic for thyroid gland disorder by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr) rs770148072 0.00002
NM_003235.5(TG):c.48G>A (p.Trp16Ter) rs780846892 0.00001
NM_000369.5(TSHR):c.545+5G>T rs1888838395
NM_003466.4(PAX8):c.457_458del (p.Leu153fs) rs1690965885
NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter) rs781126484

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