ClinVar Miner

List of variants in gene IDH2 studied for 2-hydroxyglutaric aciduria

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_002168.4(IDH2):c.996C>T (p.Ser332=) rs61737003 0.07655
NM_002168.4(IDH2):c.1050C>T (p.Thr350=) rs11540478 0.05301
NM_002168.4(IDH2):c.993G>A (p.Thr331=) rs61737002 0.01104
NM_002168.4(IDH2):c.429G>C (p.Leu143=) rs144712130 0.00769
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) rs118053940 0.00372
NM_002168.4(IDH2):c.207+4G>A rs77995170 0.00331
NM_002168.4(IDH2):c.1302C>G (p.Thr434=) rs150574164 0.00323
NM_002168.4(IDH2):c.939A>G (p.Gly313=) rs16943901 0.00280
NM_002168.4(IDH2):c.327G>A (p.Val109=) rs150943639 0.00257
NM_002168.4(IDH2):c.782G>A (p.Arg261His) rs118101777 0.00163
NM_002168.4(IDH2):c.1081-13C>T rs112703257 0.00081
NM_002168.4(IDH2):c.648C>T (p.Gly216=) rs61733007 0.00068
NM_002168.4(IDH2):c.1038C>T (p.Ala346=) rs190078206 0.00065
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00033
NM_002168.4(IDH2):c.942T>C (p.Asp314=) rs142721369 0.00024
NM_002168.4(IDH2):c.141G>A (p.Ala47=) rs145802942 0.00023
NM_002168.4(IDH2):c.1059C>T (p.Arg353=) rs143339918 0.00017
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_002168.4(IDH2):c.120C>T (p.Ala40=) rs148974231 0.00014
NM_002168.4(IDH2):c.360G>A (p.Glu120=) rs536071174 0.00013
NM_002168.4(IDH2):c.967+18del rs767324925 0.00013
NM_002168.4(IDH2):c.1081-9C>T rs201125516 0.00012
NM_002168.4(IDH2):c.1101C>T (p.Asn367=) rs751677526 0.00011
NM_002168.4(IDH2):c.276T>C (p.Thr92=) rs774212594 0.00011
NM_002168.4(IDH2):c.913G>A (p.Val305Met) rs138800371 0.00011
NM_002168.4(IDH2):c.293T>C (p.Ile98Thr) rs139512088 0.00009
NM_002168.4(IDH2):c.1189A>G (p.Met397Val) rs200359052 0.00007
NM_002168.4(IDH2):c.1345C>T (p.Leu449=) rs148745668 0.00007
NM_002168.4(IDH2):c.312C>T (p.Thr104=) rs200994809 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002168.4(IDH2):c.563G>A (p.Arg188Gln) rs749096156 0.00006
NM_002168.4(IDH2):c.1248G>A (p.Ala416=) rs373630212 0.00005
NM_002168.4(IDH2):c.140C>T (p.Ala47Val) rs201173543 0.00005
NM_002168.4(IDH2):c.374-17T>C rs566198467 0.00005
NM_002168.4(IDH2):c.388A>C (p.Lys130Gln) rs144978761 0.00005
NM_002168.4(IDH2):c.519C>T (p.His173=) rs1050572551 0.00005
NM_002168.4(IDH2):c.640G>A (p.Ala214Thr) rs367982647 0.00005
NM_002168.4(IDH2):c.207+15T>C rs760387367 0.00004
NM_002168.4(IDH2):c.588C>G (p.Phe196Leu) rs758536587 0.00004
NM_002168.4(IDH2):c.844A>G (p.Lys282Glu) rs771346231 0.00004
NM_002168.4(IDH2):c.1271+3G>A rs369912137 0.00003
NM_002168.4(IDH2):c.1284C>T (p.Asn428=) rs191547948 0.00003
NM_002168.4(IDH2):c.207+9C>T rs753374663 0.00003
NM_002168.4(IDH2):c.426C>A (p.Ile142=) rs1300077995 0.00003
NM_002168.4(IDH2):c.535-11T>C rs766940477 0.00003
NM_002168.4(IDH2):c.676G>A (p.Glu226Lys) rs576407061 0.00003
NM_002168.4(IDH2):c.815+19A>G rs775684770 0.00003
NM_002168.4(IDH2):c.1023G>A (p.Thr341=) rs370350675 0.00002
NM_002168.4(IDH2):c.1131T>C (p.Arg377=) rs549189801 0.00002
NM_002168.4(IDH2):c.1171C>T (p.Leu391Phe) rs1247633248 0.00002
NM_002168.4(IDH2):c.1266C>T (p.Leu422=) rs202133711 0.00002
NM_002168.4(IDH2):c.148G>A (p.Val50Met) rs201999104 0.00002
NM_002168.4(IDH2):c.639C>T (p.Pro213=) rs1409403464 0.00002
NM_002168.4(IDH2):c.679-7C>G rs752232116 0.00002
NM_002168.4(IDH2):c.1011T>G (p.Pro337=) rs1222450557 0.00001
NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr) rs767061831 0.00001
NM_002168.4(IDH2):c.1051G>A (p.Val351Ile) rs745389409 0.00001
NM_002168.4(IDH2):c.1081-8G>A rs755012033 0.00001
NM_002168.4(IDH2):c.1129C>T (p.Arg377Cys) rs765712414 0.00001
NM_002168.4(IDH2):c.1146G>A (p.Arg382=) rs1168665757 0.00001
NM_002168.4(IDH2):c.1156G>C (p.Asp386His) rs774323865 0.00001
NM_002168.4(IDH2):c.1167A>G (p.Gln389=) rs749134763 0.00001
NM_002168.4(IDH2):c.1178+20C>T rs372543878 0.00001
NM_002168.4(IDH2):c.1206C>T (p.Cys402=) rs780400149 0.00001
NM_002168.4(IDH2):c.1255A>G (p.Ile419Val) rs1423721679 0.00001
NM_002168.4(IDH2):c.1271+11T>C rs200898927 0.00001
NM_002168.4(IDH2):c.1354C>G (p.Gln452Glu) rs553627406 0.00001
NM_002168.4(IDH2):c.1359G>A (p.Ter453=) rs201015211 0.00001
NM_002168.4(IDH2):c.223G>A (p.Val75Met) rs956543166 0.00001
NM_002168.4(IDH2):c.255G>T (p.Gly85=) rs767257370 0.00001
NM_002168.4(IDH2):c.373+5G>A rs1901004338 0.00001
NM_002168.4(IDH2):c.373+9G>T rs755607312 0.00001
NM_002168.4(IDH2):c.427C>T (p.Leu143=) rs762170003 0.00001
NM_002168.4(IDH2):c.475C>T (p.Arg159Cys) rs1319035463 0.00001
NM_002168.4(IDH2):c.489C>A (p.Gly163=) rs750503834 0.00001
NM_002168.4(IDH2):c.534+19G>C rs746506993 0.00001
NM_002168.4(IDH2):c.535-6C>T rs760220786 0.00001
NM_002168.4(IDH2):c.562C>T (p.Arg188Trp) rs541249526 0.00001
NM_002168.4(IDH2):c.608G>A (p.Gly203Asp) rs766888561 0.00001
NM_002168.4(IDH2):c.646G>A (p.Gly216Ser) rs370851685 0.00001
NM_002168.4(IDH2):c.662T>C (p.Met221Thr) rs376694064 0.00001
NM_002168.4(IDH2):c.678+19T>C rs940765473 0.00001
NM_002168.4(IDH2):c.679-16G>A rs1900896777 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.742A>C (p.Met248Leu) rs781648958 0.00001
NM_002168.4(IDH2):c.753G>A (p.Lys251=) rs1458791406 0.00001
NM_002168.4(IDH2):c.821A>G (p.Tyr274Cys) rs774183637 0.00001
NM_002168.4(IDH2):c.903G>A (p.Ser301=) rs371460407 0.00001
NM_002168.4(IDH2):c.905G>C (p.Gly302Ala) rs1269352756 0.00001
NC_000015.9:g.(?_90627498)_(90634896_?)dup
NC_000015.9:g.(?_90645488)_(90645622_?)dup
NM_002168.4(IDH2):c.1010C>T (p.Pro337Leu) rs564700723
NM_002168.4(IDH2):c.1022C>A (p.Thr341Lys) rs1036260002
NM_002168.4(IDH2):c.1080+18G>T rs1361777365
NM_002168.4(IDH2):c.1081-3C>T rs1425884416
NM_002168.4(IDH2):c.1081-9dup rs2151546858
NM_002168.4(IDH2):c.1084C>T (p.Arg362Trp) rs368451876
NM_002168.4(IDH2):c.1096A>T (p.Thr366Ser)
NM_002168.4(IDH2):c.1143C>G (p.His381Gln) rs1596072062
NM_002168.4(IDH2):c.1152G>C (p.Lys384Asn)
NM_002168.4(IDH2):c.116-19T>G rs2505800452
NM_002168.4(IDH2):c.1178+8T>C rs777959383
NM_002168.4(IDH2):c.1178G>A (p.Arg393Lys) rs1340166037
NM_002168.4(IDH2):c.1179-3T>A rs772170724
NM_002168.4(IDH2):c.1194G>A (p.Leu398=) rs755291689
NM_002168.4(IDH2):c.1210G>C (p.Glu404Gln) rs767090389
NM_002168.4(IDH2):c.1259A>T (p.His420Leu) rs748291315
NM_002168.4(IDH2):c.1271+10C>T rs1269359720
NM_002168.4(IDH2):c.1271+13G>C
NM_002168.4(IDH2):c.1285G>A (p.Glu429Lys) rs1900800432
NM_002168.4(IDH2):c.1315G>A (p.Asp439Asn)
NM_002168.4(IDH2):c.1325A>G (p.Lys442Arg) rs2505782590
NM_002168.4(IDH2):c.1356G>A (p.Gln452=) rs2151546163
NM_002168.4(IDH2):c.1358A>G (p.Ter453Trp) rs2505782481
NM_002168.4(IDH2):c.137T>A (p.Val46Glu) rs1418340668
NM_002168.4(IDH2):c.141G>T (p.Ala47=) rs145802942
NM_002168.4(IDH2):c.145C>G (p.Pro49Ala) rs1164126819
NM_002168.4(IDH2):c.207+5T>C rs1901036129
NM_002168.4(IDH2):c.227A>G (p.Asp76Gly) rs1901009838
NM_002168.4(IDH2):c.253G>A (p.Gly85Arg)
NM_002168.4(IDH2):c.266G>A (p.Arg89His) rs371777275
NM_002168.4(IDH2):c.320A>G (p.Tyr107Cys) rs1596076050
NM_002168.4(IDH2):c.338G>T (p.Cys113Phe) rs2505796605
NM_002168.4(IDH2):c.351C>T (p.Thr117=)
NM_002168.4(IDH2):c.365G>C (p.Arg122Pro)
NM_002168.4(IDH2):c.373+11G>A
NM_002168.4(IDH2):c.374-20T>C rs2151549992
NM_002168.4(IDH2):c.389A>T (p.Lys130Met) rs529638451
NM_002168.4(IDH2):c.407A>T (p.Asn136Ile) rs749063791
NM_002168.4(IDH2):c.418C>G (p.Arg140Gly) rs267606870
NM_002168.4(IDH2):c.423_424insT (p.Ile142fs) rs2505793057
NM_002168.4(IDH2):c.425T>C (p.Ile142Thr) rs767832682
NM_002168.4(IDH2):c.432G>T (p.Gly144=) rs1254490189
NM_002168.4(IDH2):c.438T>C (p.Thr146=) rs1284288896
NM_002168.4(IDH2):c.513C>T (p.Gly171=)
NM_002168.4(IDH2):c.534+2T>C rs2151549498
NM_002168.4(IDH2):c.535-13C>T rs1216491356
NM_002168.4(IDH2):c.582G>A (p.Met194Ile) rs2505791973
NM_002168.4(IDH2):c.588C>T (p.Phe196=) rs758536587
NM_002168.4(IDH2):c.629A>G (p.Tyr210Cys) rs1347554317
NM_002168.4(IDH2):c.638C>T (p.Pro213Leu) rs2505791744
NM_002168.4(IDH2):c.645C>T (p.Gly215=)
NM_002168.4(IDH2):c.657G>A (p.Met219Ile) rs781210751
NM_002168.4(IDH2):c.661A>G (p.Met221Val) rs1009185351
NM_002168.4(IDH2):c.675C>A (p.Asp225Glu) rs543891249
NM_002168.4(IDH2):c.679-7C>A rs752232116
NM_002168.4(IDH2):c.722A>G (p.Gln241Arg)
NM_002168.4(IDH2):c.723G>C (p.Gln241His) rs1900894494
NM_002168.4(IDH2):c.729A>G (p.Lys243=) rs1596073596
NM_002168.4(IDH2):c.731G>C (p.Trp244Ser) rs1900894201
NM_002168.4(IDH2):c.734C>T (p.Pro245Leu) rs1900894030
NM_002168.4(IDH2):c.742A>G (p.Met248Val) rs781648958
NM_002168.4(IDH2):c.807dup (p.Phe270fs) rs1329635808
NM_002168.4(IDH2):c.816-19C>T rs1378202121
NM_002168.4(IDH2):c.827C>T (p.Thr276Ile)
NM_002168.4(IDH2):c.840G>C (p.Lys280Asn) rs1239921972
NM_002168.4(IDH2):c.849C>G (p.Ile283Met) rs2151548141
NM_002168.4(IDH2):c.855T>C (p.Tyr285=) rs1596073348
NM_002168.4(IDH2):c.877A>C (p.Met293Leu) rs1900881296
NM_002168.4(IDH2):c.877A>T (p.Met293Leu)
NM_002168.4(IDH2):c.923G>C (p.Cys308Ser) rs1344620365
NM_002168.4(IDH2):c.967+2T>C rs2151547972
NM_002168.4(IDH2):c.968-10T>C rs2505785937

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