ClinVar Miner

List of variants reported as likely pathogenic for Thyroid dyshormonogenesis 6

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Total variants: 13
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HGVS dbSNP
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala)
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp)
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs) rs1566978577
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly)

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