ClinVar Miner

List of variants studied for 2-hydroxyglutaric aciduria by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NC_000002.12:g.(?_241735205)_(241767989_?)dup
NC_000002.12:g.(?_241741010)_(241767989_?)del
NC_000014.9:g.(?_50267733)_(50269350_?)del
NM_001289910.1(IDH2):c.1148C>T (p.Thr383Met) rs118053940
NM_001289910.1(IDH2):c.171G>A (p.Val57=) rs150943639
NM_001289910.1(IDH2):c.204G>A (p.Glu68=) rs536071174
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.273G>C (p.Leu91=) rs144712130
NM_001289910.1(IDH2):c.432C>G (p.Phe144Leu) rs758536587
NM_001289910.1(IDH2):c.517G>A (p.Asp173Asn) rs142816010
NM_001289910.1(IDH2):c.626G>A (p.Arg209His) rs118101777
NM_001289910.1(IDH2):c.688A>G (p.Lys230Glu) rs771346231
NM_001289910.1(IDH2):c.783A>G (p.Gly261=) rs16943901
NM_001289910.1(IDH2):c.837G>A (p.Thr279=) rs61737002
NM_001289910.1(IDH2):c.882C>T (p.Ala294=) rs190078206
NM_001289910.1(IDH2):c.894C>T (p.Thr298=) rs11540478
NM_001289910.1(IDH2):c.973C>T (p.Arg325Cys) rs765712414
NM_002168.3(IDH2):c.23T>C (p.Val8Ala) rs369445642
NM_002168.4(IDH2):c.1003G>A (p.Val335Ile) rs140596855
NM_002168.4(IDH2):c.120C>T (p.Ala40=) rs148974231
NM_002168.4(IDH2):c.1302C>G (p.Thr434=) rs150574164
NM_002168.4(IDH2):c.1354C>G (p.Gln452Glu)
NM_002168.4(IDH2):c.137T>A (p.Val46Glu)
NM_002168.4(IDH2):c.141G>A (p.Ala47=) rs145802942
NM_002168.4(IDH2):c.207+4G>A rs77995170
NM_002168.4(IDH2):c.227A>G (p.Asp76Gly)
NM_002168.4(IDH2):c.276T>C (p.Thr92=) rs774212594
NM_002168.4(IDH2):c.293T>C (p.Ile98Thr)
NM_002168.4(IDH2):c.535-6C>T rs760220786
NM_002168.4(IDH2):c.723G>C (p.Gln241His)
NM_002168.4(IDH2):c.923G>C (p.Cys308Ser)
NM_002168.4(IDH2):c.942T>C (p.Asp314=) rs142721369
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) rs373172891
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) rs192927318
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys)
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) rs201806251
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) rs937345512
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) rs140209047
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.530del (p.Pro177fs) rs766538932
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe) rs770542189
NM_024884.3(L2HGDH):c.574A>G (p.Ile192Val)
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) rs368140834
NM_024884.3(L2HGDH):c.600G>A (p.Leu200=) rs748499389
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser) rs574500803
NM_024884.3(L2HGDH):c.663T>C (p.Gly221=) rs201951588
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=) rs141562044
NM_024884.3(L2HGDH):c.779G>T (p.Gly260Val)
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His)
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln)
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
NM_152783.5(D2HGDH):c.1054G>C (p.Glu352Gln)
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg) rs1575286670
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371
NM_152783.5(D2HGDH):c.1334C>T (p.Thr445Met)
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs) rs1559404382
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736
NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro) rs1575352566
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val) rs369324431
NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile) rs375162898
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524
NM_152783.5(D2HGDH):c.292+9G>A rs148813816
NM_152783.5(D2HGDH):c.351-8C>T rs368141783
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.483C>T (p.Ser161=)
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517
NM_152783.5(D2HGDH):c.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377
NM_152783.5(D2HGDH):c.685-2A>G rs753528947
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_152783.5(D2HGDH):c.740C>T (p.Thr247Met)
NM_152783.5(D2HGDH):c.853+2T>C rs1559364994
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=) rs142073267

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