ClinVar Miner

List of variants reported as benign for D-2-hydroxyglutaric aciduria 1 by Invitae

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Total variants: 23
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HGVS dbSNP
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364
NM_152783.5(D2HGDH):c.292+9G>A rs148813816
NM_152783.5(D2HGDH):c.293-18A>G rs4073889
NM_152783.5(D2HGDH):c.293-23A>T rs145731647
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_152783.5(D2HGDH):c.685-9T>C rs4234097
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=) rs142073267

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