ClinVar Miner

List of variants reported as likely pathogenic for TET3 deficiency

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu) rs1691236972 0.00001
NM_001287491.2(TET3):c.1215del (p.Trp406fs) rs1573779765
NM_001287491.2(TET3):c.2552C>T (p.Thr851Met) rs1573856970
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu) rs1227643933
NM_001287491.2(TET3):c.3215T>G (p.Phe1072Cys) rs1573906351
NM_001287491.2(TET3):c.3226G>A (p.Ala1076Thr) rs1573906389
NM_001287491.2(TET3):c.4977_4983del (p.His1660fs) rs1572907400
NM_001287491.2(TET3):c.5083C>T (p.Gln1695Ter) rs1572907595

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