ClinVar Miner

List of variants reported as benign for 2-hydroxyglutaric aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_152783.5(D2HGDH):c.*254G>A rs6713318
NM_152783.5(D2HGDH):c.*266G>A rs145823152
NM_152783.5(D2HGDH):c.*26C>T rs141211991
NM_152783.5(D2HGDH):c.*27C>T rs150707660
NM_152783.5(D2HGDH):c.*427G>A rs142873084
NM_152783.5(D2HGDH):c.*433G>T
NM_152783.5(D2HGDH):c.*449C>T rs4234096
NM_152783.5(D2HGDH):c.*661C>T rs113372064
NM_152783.5(D2HGDH):c.*688G>A rs6716743
NM_152783.5(D2HGDH):c.*778C>T rs6746151
NM_152783.5(D2HGDH):c.*801A>G rs35671465
NM_152783.5(D2HGDH):c.*93T>C rs11552660
NM_152783.5(D2HGDH):c.-91C>G rs62191976
NM_152783.5(D2HGDH):c.-99A>G rs7370843
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.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1307-15C>T
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595
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.43C>G (p.Arg15Gly) rs4675887
NM_152783.5(D2HGDH):c.685-9T>C rs4234097
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=) rs142073267

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