ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.-99A>G rs7370843 0.70817
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_152783.5(D2HGDH):c.*449C>T rs4234096 0.49853
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
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.*801A>G rs35671465 0.16469
NM_152783.5(D2HGDH):c.*778C>T rs6746151 0.15209
NM_152783.5(D2HGDH):c.*254G>A rs6713318 0.13504
NM_152783.5(D2HGDH):c.*93T>C rs11552660 0.10660
NM_152783.5(D2HGDH):c.*688G>A rs6716743 0.08600
NM_152783.5(D2HGDH):c.*661C>T rs113372064 0.06400
NM_152783.5(D2HGDH):c.-91C>G rs62191976 0.04794
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.292+9G>A rs148813816 0.02496
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507 0.01790
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595 0.01280
NM_152783.5(D2HGDH):c.*427G>A rs142873084 0.01193
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130 0.00949
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
NM_152783.5(D2HGDH):c.*26C>T rs141211991 0.00666
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=) rs142073267 0.00425
NM_152783.5(D2HGDH):c.*27C>T rs150707660 0.00382
NM_152783.5(D2HGDH):c.1307-15C>T rs111836685 0.00311
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524 0.00297
NM_152783.5(D2HGDH):c.*266G>A rs145823152 0.00209
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174 0.00038
NM_152783.5(D2HGDH):c.*433G>T rs146545933
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047

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