ClinVar Miner

List of variants reported as likely benign for Thyroid dyshormonogenesis 6

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.2286G>A (p.Gln762=) rs73406334 0.07585
NM_001363711.2(DUOX2):c.2148+9C>T rs73406337 0.07581
NM_001363711.2(DUOX2):c.2102G>A (p.Arg701Gln) rs113400262 0.04972
NM_001363711.2(DUOX2):c.-42C>G rs112353868 0.04827
NM_001363711.2(DUOX2):c.1302A>G (p.Arg434=) rs78412174 0.03060
NM_001363711.2(DUOX2):c.3966C>T (p.Ser1322=) rs61730032 0.02613
NM_001363711.2(DUOX2):c.1693+10G>A rs76411432 0.02317
NM_001363711.2(DUOX2):c.3261G>A (p.Ala1087=) rs79480907 0.01330
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_001363711.2(DUOX2):c.3042G>A (p.Ala1014=) rs112598817 0.00449
NM_001363711.2(DUOX2):c.501C>T (p.Asn167=) rs76681174 0.00333
NM_001363711.2(DUOX2):c.700C>T (p.Pro234Ser) rs553859355 0.00298
NM_001363711.2(DUOX2):c.303C>A (p.Arg101=) rs117041393 0.00124
NM_001363711.2(DUOX2):c.1428C>A (p.Asn476Lys) rs199918362 0.00006
NM_001363711.2(DUOX2):c.1786C>T (p.Pro596Ser) rs373790251 0.00006
NM_001363711.2(DUOX2):c.*591C>T rs11070441
NM_001363711.2(DUOX2):c.2944C>G (p.Pro982Ala) rs61730030

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