ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 180
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002168.4(IDH2):c.993G>A (p.Thr331=) rs61737002 0.01104
NM_002168.4(IDH2):c.429G>C (p.Leu143=) rs144712130 0.00824
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.*40C>T rs139456115 0.00309
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_002168.4(IDH2):c.782G>A (p.Arg261His) rs118101777 0.00163
NM_152783.5(D2HGDH):c.*410G>A rs568821876 0.00159
NM_152783.5(D2HGDH):c.76C>T (p.Arg26Trp) rs146696295 0.00094
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156 0.00073
NM_152783.5(D2HGDH):c.-92-4C>G rs146482048 0.00071
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys) rs143460342 0.00071
NM_152783.5(D2HGDH):c.997+18_997+19del rs371493676 0.00064
NM_152783.5(D2HGDH):c.840C>T (p.Asn280=) rs138467167 0.00046
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702 0.00029
NM_002168.4(IDH2):c.141G>A (p.Ala47=) rs145802942 0.00024
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258 0.00019
NM_002168.4(IDH2):c.890T>C (p.Val297Ala) rs538460237 0.00017
NM_002168.4(IDH2):c.1003G>A (p.Val335Ile) rs140596855 0.00016
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=) rs377034676 0.00016
NM_002168.4(IDH2):c.120C>T (p.Ala40=) rs148974231 0.00014
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002 0.00014
NM_002168.4(IDH2):c.276T>C (p.Thr92=) rs774212594 0.00013
NM_152783.5(D2HGDH):c.*474C>T rs570372209 0.00013
NM_002168.4(IDH2):c.360G>A (p.Glu120=) rs536071174 0.00011
NM_002168.4(IDH2):c.75C>T (p.Ala25=) rs754996897 0.00011
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017 0.00011
NM_152783.5(D2HGDH):c.1306+15G>A rs759068118 0.00010
NM_152783.5(D2HGDH):c.1306+10G>A rs375156639 0.00009
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=) rs140447217 0.00009
NM_002168.4(IDH2):c.1345C>T (p.Leu449=) rs148745668 0.00008
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.924T>G (p.Ser308=) rs761427826 0.00008
NM_152783.5(D2HGDH):c.997+18A>G rs763494373 0.00008
NM_152783.5(D2HGDH):c.1141-14G>A rs376050718 0.00006
NM_152783.5(D2HGDH):c.114C>T (p.Ser38=) rs767944127 0.00006
NM_152783.5(D2HGDH):c.138G>A (p.Pro46=) rs527434206 0.00006
NM_152783.5(D2HGDH):c.1306+7G>A rs537773004 0.00005
NM_152783.5(D2HGDH):c.1452C>T (p.Asp484=) rs373229694 0.00005
NM_152783.5(D2HGDH):c.198C>T (p.Asp66=) rs751534794 0.00005
NM_152783.5(D2HGDH):c.854-8C>T rs758727451 0.00005
NM_002168.4(IDH2):c.207+15T>C rs760387367 0.00004
NM_002168.4(IDH2):c.207+9C>T rs753374663 0.00004
NM_152783.5(D2HGDH):c.1122C>T (p.Thr374=) rs556507268 0.00004
NM_152783.5(D2HGDH):c.483C>T (p.Ser161=) rs781581192 0.00004
NM_152783.5(D2HGDH):c.516C>T (p.Cys172=) rs971378866 0.00004
NM_152783.5(D2HGDH):c.1080C>T (p.His360=) rs765266342 0.00003
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=) rs183342534 0.00003
NM_152783.5(D2HGDH):c.1141-12C>T rs753825335 0.00003
NM_152783.5(D2HGDH):c.1275C>T (p.His425=) rs778298075 0.00003
NM_152783.5(D2HGDH):c.1306+14C>T rs368074891 0.00003
NM_152783.5(D2HGDH):c.1428C>T (p.His476=) rs776978504 0.00003
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=) rs371102955 0.00003
NM_152783.5(D2HGDH):c.327G>A (p.Ser109=) rs374304979 0.00003
NM_152783.5(D2HGDH):c.351-8C>T rs368141783 0.00003
NM_002168.4(IDH2):c.1023G>A (p.Thr341=) rs370350675 0.00002
NM_002168.4(IDH2):c.535-6C>T rs760220786 0.00002
NM_002168.4(IDH2):c.639C>T (p.Pro213=) rs1409403464 0.00002
NM_152783.5(D2HGDH):c.490+18G>A rs747902589 0.00002
NM_152783.5(D2HGDH):c.696C>T (p.Asp232=) rs747611461 0.00002
NM_002168.4(IDH2):c.1011T>G (p.Pro337=) rs1222450557 0.00001
NM_002168.4(IDH2):c.1146G>A (p.Arg382=) rs1168665757 0.00001
NM_002168.4(IDH2):c.1167A>G (p.Gln389=) rs749134763 0.00001
NM_002168.4(IDH2):c.1271+11T>C rs200898927 0.00001
NM_002168.4(IDH2):c.373+9G>T rs755607312 0.00001
NM_002168.4(IDH2):c.489C>A (p.Gly163=) rs750503834 0.00001
NM_002168.4(IDH2):c.678+19T>C rs940765473 0.00001
NM_002168.4(IDH2):c.679-6C>A rs1487904652 0.00001
NM_002168.4(IDH2):c.705C>T (p.Cys235=) rs773159667 0.00001
NM_002168.4(IDH2):c.753G>A (p.Lys251=) rs1458791406 0.00001
NM_002168.4(IDH2):c.903G>A (p.Ser301=) rs371460407 0.00001
NM_152783.5(D2HGDH):c.1152C>T (p.Ala384=) rs907792347 0.00001
NM_152783.5(D2HGDH):c.1398C>T (p.Ala466=) rs751529813 0.00001
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=) rs763276027 0.00001
NM_152783.5(D2HGDH):c.1548G>A (p.Thr516=) rs767481650 0.00001
NM_152783.5(D2HGDH):c.156C>T (p.Tyr52=) rs1342397334 0.00001
NM_152783.5(D2HGDH):c.930C>T (p.Phe310=) rs771622834 0.00001
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359 0.00001
NM_152783.5(D2HGDH):c.997+11C>T rs529526867 0.00001
NM_002168.4(IDH2):c.1059C>T (p.Arg353=)
NM_002168.4(IDH2):c.1080+18G>T
NM_002168.4(IDH2):c.1081-8G>A
NM_002168.4(IDH2):c.1131T>C (p.Arg377=)
NM_002168.4(IDH2):c.115+9C>A rs1901354749
NM_002168.4(IDH2):c.116-19T>G
NM_002168.4(IDH2):c.1178+20C>T
NM_002168.4(IDH2):c.1178+8T>C
NM_002168.4(IDH2):c.1189A>G (p.Met397Val)
NM_002168.4(IDH2):c.1194G>A (p.Leu398=) rs755291689
NM_002168.4(IDH2):c.1206C>T (p.Cys402=)
NM_002168.4(IDH2):c.1248G>A (p.Ala416=)
NM_002168.4(IDH2):c.1271+10C>T
NM_002168.4(IDH2):c.1356G>A (p.Gln452=) rs2151546163
NM_002168.4(IDH2):c.1359G>A (p.Ter453=) rs201015211
NM_002168.4(IDH2):c.141G>T (p.Ala47=) rs145802942
NM_002168.4(IDH2):c.21C>T (p.Val7=)
NM_002168.4(IDH2):c.255G>T (p.Gly85=)
NM_002168.4(IDH2):c.374-20T>C rs2151549992
NM_002168.4(IDH2):c.426C>A (p.Ile142=)
NM_002168.4(IDH2):c.427C>T (p.Leu143=) rs762170003
NM_002168.4(IDH2):c.432G>T (p.Gly144=)
NM_002168.4(IDH2):c.438T>C (p.Thr146=) rs1284288896
NM_002168.4(IDH2):c.519C>T (p.His173=)
NM_002168.4(IDH2):c.534+19G>C
NM_002168.4(IDH2):c.535-11T>C
NM_002168.4(IDH2):c.535-13C>T
NM_002168.4(IDH2):c.588C>T (p.Phe196=)
NM_002168.4(IDH2):c.679-16G>A
NM_002168.4(IDH2):c.69G>C (p.Pro23=)
NM_002168.4(IDH2):c.729A>G (p.Lys243=) rs1596073596
NM_002168.4(IDH2):c.76C>T (p.Leu26=)
NM_002168.4(IDH2):c.815+19A>G
NM_002168.4(IDH2):c.816-19C>T
NM_002168.4(IDH2):c.855T>C (p.Tyr285=)
NM_002168.4(IDH2):c.968-10T>C
NM_152783.5(D2HGDH):c.1038C>T (p.Asn346=)
NM_152783.5(D2HGDH):c.1140+19G>T
NM_152783.5(D2HGDH):c.1141-15C>T
NM_152783.5(D2HGDH):c.1152C>A (p.Ala384=)
NM_152783.5(D2HGDH):c.1182C>T (p.Ser394=)
NM_152783.5(D2HGDH):c.1206C>T (p.Tyr402=)
NM_152783.5(D2HGDH):c.1212C>T (p.Leu404=)
NM_152783.5(D2HGDH):c.1239C>T (p.Asp413=)
NM_152783.5(D2HGDH):c.1266C>T (p.Leu422=)
NM_152783.5(D2HGDH):c.126C>G (p.Thr42=)
NM_152783.5(D2HGDH):c.1272G>T (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1284C>T (p.His428=)
NM_152783.5(D2HGDH):c.1302C>T (p.His434=)
NM_152783.5(D2HGDH):c.1306+11C>T
NM_152783.5(D2HGDH):c.1356G>A (p.Ser452=)
NM_152783.5(D2HGDH):c.1377C>T (p.Pro459=) rs143940595
NM_152783.5(D2HGDH):c.1398C>A (p.Ala466=)
NM_152783.5(D2HGDH):c.1401G>A (p.Gly467=)
NM_152783.5(D2HGDH):c.1419C>T (p.Ser473=)
NM_152783.5(D2HGDH):c.1422G>A (p.Ala474=)
NM_152783.5(D2HGDH):c.1503C>G (p.Leu501=)
NM_152783.5(D2HGDH):c.1548G>T (p.Thr516=) rs767481650
NM_152783.5(D2HGDH):c.177C>T (p.Phe59=)
NM_152783.5(D2HGDH):c.204C>T (p.Ala68=)
NM_152783.5(D2HGDH):c.228C>T (p.Gly76=) rs771597564
NM_152783.5(D2HGDH):c.285G>C (p.Thr95=)
NM_152783.5(D2HGDH):c.350+18G>A
NM_152783.5(D2HGDH):c.351-18C>T
NM_152783.5(D2HGDH):c.351-20C>G
NM_152783.5(D2HGDH):c.357C>T (p.Cys119=)
NM_152783.5(D2HGDH):c.37C>T (p.Leu13=) rs965315670
NM_152783.5(D2HGDH):c.39G>A (p.Leu13=)
NM_152783.5(D2HGDH):c.43C>A (p.Arg15=)
NM_152783.5(D2HGDH):c.447C>T (p.Ser149=) rs1694760766
NM_152783.5(D2HGDH):c.456C>A (p.Arg152=) rs2125068746
NM_152783.5(D2HGDH):c.471C>T (p.Leu157=)
NM_152783.5(D2HGDH):c.477C>T (p.Phe159=) rs2125068910
NM_152783.5(D2HGDH):c.537G>A (p.Arg179=)
NM_152783.5(D2HGDH):c.567G>T (p.Pro189=)
NM_152783.5(D2HGDH):c.57A>G (p.Gly19=) rs2124994384
NM_152783.5(D2HGDH):c.600C>A (p.Ile200=) rs775046649
NM_152783.5(D2HGDH):c.600C>T (p.Ile200=) rs775046649
NM_152783.5(D2HGDH):c.609C>T (p.Asn203=)
NM_152783.5(D2HGDH):c.615A>G (p.Ala205=)
NM_152783.5(D2HGDH):c.621C>T (p.Asn207=)
NM_152783.5(D2HGDH):c.669C>T (p.Val223=)
NM_152783.5(D2HGDH):c.675C>T (p.Gly225=) rs781012097
NM_152783.5(D2HGDH):c.685-20G>A
NM_152783.5(D2HGDH):c.685-9_685-8inv
NM_152783.5(D2HGDH):c.693C>T (p.Ala231=)
NM_152783.5(D2HGDH):c.6G>A (p.Leu2=) rs925382170
NM_152783.5(D2HGDH):c.741G>A (p.Thr247=)
NM_152783.5(D2HGDH):c.831G>A (p.Arg277=)
NM_152783.5(D2HGDH):c.854-19A>G
NM_152783.5(D2HGDH):c.873G>A (p.Glu291=)
NM_152783.5(D2HGDH):c.87C>T (p.Gly29=)
NM_152783.5(D2HGDH):c.997+12C>T
NM_152783.5(D2HGDH):c.997+13C>G
NM_152783.5(D2HGDH):c.997+17C>T rs775900141
NM_152783.5(D2HGDH):c.997+8C>T
NM_152783.5(D2HGDH):c.998-7C>T

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.