ClinVar Miner

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

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.1307-24A>G rs6756901 0.61160
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_152783.5(D2HGDH):c.490+40T>C rs78147778 0.27008
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639 0.25945
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442 0.03691
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322 0.02768
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507 0.01790
NM_152783.5(D2HGDH):c.293-23A>T rs145731647 0.01298
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595 0.01280
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130 0.00949
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524 0.00297
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371 0.00267
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235 0.00235
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303 0.00176
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156 0.00073
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.1386C>T (p.Tyr462=) rs201294258 0.00019
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile) rs143231454 0.00010
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=) rs140447217 0.00009
NM_152783.5(D2HGDH):c.1242C>T (p.Ile414=) rs758849873 0.00008
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.998-3T>C rs760933277 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.1191C>T (p.Gly397=) rs772322155 0.00002
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.432C>T (p.Asp144=) rs541023216 0.00001
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 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.1027del (p.Ser343fs) rs797045506
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1306+2T>C rs797045507
NM_152783.5(D2HGDH):c.202G>A (p.Ala68Thr) rs1553599755
NM_152783.5(D2HGDH):c.293-18A>G rs4073889

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