ClinVar Miner

List of variants studied for inherited thyroid metabolism disease by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu) rs115936153 0.00159
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) rs778410503 0.00009
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004

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