ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.292+28T>G rs62191977 0.74780
NM_152783.5(D2HGDH):c.-99A>G rs7370843 0.70817
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.854-1200C>T rs35386923 0.53647
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.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.*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.293-23A>T rs145731647 0.01298
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.1276G>A (p.Ala426Thr) rs146578303 0.00633
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.720C>A (p.Thr240=) rs147210645 0.00323
NM_152783.5(D2HGDH):c.1307-19T>C rs113076082 0.00319
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.1308A>G (p.Gly436=) rs113782371 0.00267
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235 0.00235
NM_152783.5(D2HGDH):c.*266G>A rs145823152 0.00209
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303 0.00176
NM_152783.5(D2HGDH):c.490+16C>T rs375775579 0.00116
NM_152783.5(D2HGDH):c.491-18C>T rs369380533 0.00101
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174 0.00038
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258 0.00019
NM_152783.5(D2HGDH):c.93G>T (p.Leu31=) rs375720367 0.00012
NM_152783.5(D2HGDH):c.432C>T (p.Asp144=) rs541023216 0.00001
NM_152783.5(D2HGDH):c.490+20C>T rs771839448 0.00001
NM_152783.5(D2HGDH):c.*433G>T rs146545933
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.293-18A>G rs4073889
NM_152783.5(D2HGDH):c.350+19del rs561094508
NM_152783.5(D2HGDH):c.997+13del rs1307856808

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.