ClinVar Miner

List of variants studied for D-2-hydroxyglutaric aciduria 1 by Invitae

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Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
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.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.1063G>A (p.Gly355Ser) rs139321130 0.00949
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
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.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.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.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.1357C>T (p.Leu453Phe) rs145839736 0.00052
NM_152783.5(D2HGDH):c.840C>T (p.Asn280=) rs138467167 0.00046
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174 0.00038
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702 0.00029
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr) rs142624021 0.00025
NM_152783.5(D2HGDH):c.1334C>T (p.Thr445Met) rs200103827 0.00019
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258 0.00019
NM_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys) rs138598929 0.00016
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=) rs377034676 0.00016
NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His) rs139611034 0.00014
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002 0.00014
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377 0.00014
NM_152783.5(D2HGDH):c.93G>T (p.Leu31=) rs375720367 0.00012
NM_152783.5(D2HGDH):c.997+6G>A rs749247772 0.00012
NM_152783.5(D2HGDH):c.1328A>G (p.Asn443Ser) rs149519095 0.00011
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017 0.00011
NM_152783.5(D2HGDH):c.685-2A>G rs753528947 0.00011
NM_152783.5(D2HGDH):c.1306+15G>A rs759068118 0.00010
NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile) rs375162898 0.00010
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile) rs143231454 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.832G>A (p.Ala278Thr) rs148920052 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.1547C>T (p.Thr516Met) rs762019434 0.00007
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.1243G>A (p.Val415Met) rs371794611 0.00006
NM_152783.5(D2HGDH):c.1256G>A (p.Arg419His) rs199908032 0.00006
NM_152783.5(D2HGDH):c.138G>A (p.Pro46=) rs527434206 0.00006
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val) rs369324431 0.00006
NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp) rs1437082537 0.00005
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.1528A>G (p.Ile510Val) rs749622678 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.1430G>C (p.Gly477Ala) rs565397135 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.1351C>T (p.Pro451Ser) rs527825722 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.325_326dup (p.Glu110fs) rs749330477 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.821C>T (p.Pro274Leu) rs781751387 0.00003
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys) rs769832110 0.00002
NM_152783.5(D2HGDH):c.1523A>G (p.Lys508Arg) rs770361030 0.00002
NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro) rs797045509 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_152783.5(D2HGDH):c.746A>G (p.Tyr249Cys) rs761760267 0.00002
NM_152783.5(D2HGDH):c.107G>T (p.Cys36Phe) rs762478969 0.00001
NM_152783.5(D2HGDH):c.1152C>T (p.Ala384=) rs907792347 0.00001
NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met) rs769624048 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.1505A>G (p.Lys502Arg) rs751788334 0.00001
NM_152783.5(D2HGDH):c.1535A>G (p.Asn512Ser) rs797045508 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.188C>G (p.Ser63Cys) rs752903016 0.00001
NM_152783.5(D2HGDH):c.263C>T (p.Pro88Leu) rs750320267 0.00001
NM_152783.5(D2HGDH):c.290G>A (p.Arg97Gln) rs1692514824 0.00001
NM_152783.5(D2HGDH):c.29C>T (p.Pro10Leu) rs1437303780 0.00001
NM_152783.5(D2HGDH):c.432C>T (p.Asp144=) rs541023216 0.00001
NM_152783.5(D2HGDH):c.451G>A (p.Ala151Thr) rs761620958 0.00001
NM_152783.5(D2HGDH):c.490+20C>T rs771839448 0.00001
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr) rs773735172 0.00001
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 0.00001
NM_152783.5(D2HGDH):c.601G>A (p.Gly201Arg) rs772738615 0.00001
NM_152783.5(D2HGDH):c.684+12C>T rs1695154641 0.00001
NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser) rs374535734 0.00001
NM_152783.5(D2HGDH):c.740C>T (p.Thr247Met) rs768774887 0.00001
NM_152783.5(D2HGDH):c.862G>C (p.Gly288Arg) rs757451444 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
NC_000002.11:g.(?_238233417)_(242800990_?)dup
NC_000002.11:g.(?_238233417)_(242801596_?)del
NC_000002.11:g.(?_242680425)_(242684312_?)del
NC_000002.11:g.(?_242707105)_(242707384_?)del
NC_000002.11:g.(?_242707105)_(242707384_?)dup
NC_000002.12:g.(?_241735205)_(241767989_?)dup
NC_000002.12:g.(?_241741010)_(241767989_?)del
NM_152783.5(D2HGDH):c.1018A>G (p.Ile340Val)
NM_152783.5(D2HGDH):c.1038C>T (p.Asn346=)
NM_152783.5(D2HGDH):c.103_104delinsAA (p.Gly35Asn) rs2124995392
NM_152783.5(D2HGDH):c.1054G>C (p.Glu352Gln) rs1697158886
NM_152783.5(D2HGDH):c.1064G>A (p.Gly355Asp) rs1697160410
NM_152783.5(D2HGDH):c.1114A>G (p.Met372Val)
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg) rs1575286670
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.1160A>T (p.Glu387Val)
NM_152783.5(D2HGDH):c.1182C>T (p.Ser394=)
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
NM_152783.5(D2HGDH):c.11G>T (p.Arg4Leu)
NM_152783.5(D2HGDH):c.1206C>T (p.Tyr402=)
NM_152783.5(D2HGDH):c.1212C>T (p.Leu404=)
NM_152783.5(D2HGDH):c.1214C>T (p.Ser405Phe) rs1698116237
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.1271C>T (p.Pro424Leu)
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
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.1306+1del rs2125158367
NM_152783.5(D2HGDH):c.1307G>T (p.Gly436Val)
NM_152783.5(D2HGDH):c.1324C>T (p.Leu442Phe)
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs) rs1559404382
NM_152783.5(D2HGDH):c.1356G>A (p.Ser452=)
NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro) rs1575352566
NM_152783.5(D2HGDH):c.1377C>T (p.Pro459=) rs143940595
NM_152783.5(D2HGDH):c.1393del (p.Thr465fs) rs1699275754
NM_152783.5(D2HGDH):c.1394C>T (p.Thr465Met)
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.1495C>G (p.Gln499Glu)
NM_152783.5(D2HGDH):c.1503C>G (p.Leu501=)
NM_152783.5(D2HGDH):c.1525G>T (p.Gly509Cys)
NM_152783.5(D2HGDH):c.1531del (p.Leu511fs)
NM_152783.5(D2HGDH):c.1548G>T (p.Thr516=) rs767481650
NM_152783.5(D2HGDH):c.164G>C (p.Arg55Pro)
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.229G>A (p.Gly77Arg)
NM_152783.5(D2HGDH):c.257A>G (p.Gln86Arg)
NM_152783.5(D2HGDH):c.273C>G (p.Asp91Glu)
NM_152783.5(D2HGDH):c.281G>T (p.Arg94Leu)
NM_152783.5(D2HGDH):c.285G>C (p.Thr95=)
NM_152783.5(D2HGDH):c.289C>G (p.Arg97Gly)
NM_152783.5(D2HGDH):c.293-18A>G rs4073889
NM_152783.5(D2HGDH):c.320G>A (p.Arg107Gln)
NM_152783.5(D2HGDH):c.350+18G>A
NM_152783.5(D2HGDH):c.350+19del rs561094508
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.392dup (p.Asn132fs)
NM_152783.5(D2HGDH):c.39G>A (p.Leu13=)
NM_152783.5(D2HGDH):c.418G>A (p.Val140Ile)
NM_152783.5(D2HGDH):c.43C>A (p.Arg15=)
NM_152783.5(D2HGDH):c.447C>T (p.Ser149=) rs1694760766
NM_152783.5(D2HGDH):c.455G>T (p.Arg152Leu)
NM_152783.5(D2HGDH):c.456C>A (p.Arg152=) rs2125068746
NM_152783.5(D2HGDH):c.471C>T (p.Leu157=)
NM_152783.5(D2HGDH):c.472A>G (p.Ser158Gly)
NM_152783.5(D2HGDH):c.477C>T (p.Phe159=) rs2125068910
NM_152783.5(D2HGDH):c.509C>T (p.Ala170Val)
NM_152783.5(D2HGDH):c.537G>A (p.Arg179=)
NM_152783.5(D2HGDH):c.549A>T (p.Glu183Asp) rs758354618
NM_152783.5(D2HGDH):c.567G>T (p.Pro189=)
NM_152783.5(D2HGDH):c.574T>G (p.Leu192Val) rs2125080715
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.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.658C>T (p.His220Tyr)
NM_152783.5(D2HGDH):c.669C>T (p.Val223=)
NM_152783.5(D2HGDH):c.675C>T (p.Gly225=) rs781012097
NM_152783.5(D2HGDH):c.684+9G>C
NM_152783.5(D2HGDH):c.685-20G>A
NM_152783.5(D2HGDH):c.685-9_685-8inv
NM_152783.5(D2HGDH):c.685G>A (p.Val229Met)
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.79C>T (p.Pro27Ser)
NM_152783.5(D2HGDH):c.800C>T (p.Thr267Met)
NM_152783.5(D2HGDH):c.831G>A (p.Arg277=)
NM_152783.5(D2HGDH):c.841G>C (p.Val281Leu)
NM_152783.5(D2HGDH):c.853+2T>C rs1559364994
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.887_888insGG (p.Phe296fs)
NM_152783.5(D2HGDH):c.893C>G (p.Thr298Ser)
NM_152783.5(D2HGDH):c.911G>A (p.Gly304Asp)
NM_152783.5(D2HGDH):c.964_984dup (p.Ala328_Ser329insGlyArgHisLeuHisLeuAla)
NM_152783.5(D2HGDH):c.989C>T (p.Pro330Leu)
NM_152783.5(D2HGDH):c.997+12C>T
NM_152783.5(D2HGDH):c.997+13C>G
NM_152783.5(D2HGDH):c.997+13del rs1307856808
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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