ClinVar Miner

List of variants in gene DUOX2 reported as likely pathogenic for Congenital hypothyroidism

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_001363711.2(DUOX2):c.3416-1G>A rs2141143881
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345

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