ClinVar Miner

List of variants reported for Thyroid dyshormonogenesis 6 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.3515+15T>A rs269869 0.99253
NM_001363711.2(DUOX2):c.413C>T (p.Pro138Leu) rs2001616 0.75375
NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu) rs269868 0.71631
NM_001363711.2(DUOX2):c.1461G>C (p.Gly487=) rs269860
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345

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