ClinVar Miner

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

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Total variants: 106
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HGVS dbSNP gnomAD frequency
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.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_152783.5(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702 0.00029
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=) rs377034676 0.00016
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002 0.00014
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_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_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_152783.5(D2HGDH):c.490+18G>A rs747902589 0.00002
NM_152783.5(D2HGDH):c.696C>T (p.Asp232=) rs747611461 0.00002
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_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

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