ClinVar Miner

List of variants in gene D2HGDH reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys) rs143460342 0.00071
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736 0.00052
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln) rs201921601 0.00027
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile) rs143231454 0.00010
NM_152783.5(D2HGDH):c.1413C>T (p.Ser471=) rs755871797 0.00008
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met) rs762019434 0.00007
NM_152783.5(D2HGDH):c.600C>G (p.Ile200Met) rs775046649 0.00006
NM_152783.5(D2HGDH):c.685-8G>A rs369498498 0.00006
NM_152783.5(D2HGDH):c.1122C>T (p.Thr374=) rs556507268 0.00004
NM_152783.5(D2HGDH):c.1267G>A (p.Gly423Ser) rs372062694 0.00004
NM_152783.5(D2HGDH):c.327G>A (p.Ser109=) rs374304979 0.00003
NM_152783.5(D2HGDH):c.773C>T (p.Ser258Leu) rs754696671 0.00003
NM_152783.5(D2HGDH):c.821C>T (p.Pro274Leu) rs781751387 0.00003
NM_152783.5(D2HGDH):c.1105G>A (p.Asp369Asn) rs748762268 0.00001
NM_152783.5(D2HGDH):c.1535A>G (p.Asn512Ser) rs797045508 0.00001
NM_152783.5(D2HGDH):c.841G>A (p.Val281Met) rs774490078 0.00001
NM_152783.5(D2HGDH):c.896G>A (p.Cys299Tyr) rs769653234 0.00001
NM_152783.5(D2HGDH):c.921G>T (p.Leu307=) rs774061348 0.00001
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.202G>A (p.Ala68Thr) rs1553599755

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