ClinVar Miner

List of variants reported as uncertain significance for D-2-hydroxyglutaric aciduria 2

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_002168.4(IDH2):c.23T>C (p.Val8Ala) rs369445642 0.00231
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.563G>A (p.Arg188Gln) rs749096156 0.00006
NM_002168.4(IDH2):c.62G>C (p.Trp21Ser) rs776341694 0.00006
NM_002168.4(IDH2):c.65C>T (p.Ala22Val) rs770871840 0.00005
NM_002168.4(IDH2):c.844A>G (p.Lys282Glu) rs771346231 0.00004
NM_002168.4(IDH2):c.562C>T (p.Arg188Trp) rs541249526 0.00003
NM_002168.4(IDH2):c.588C>G (p.Phe196Leu) rs758536587 0.00003
NM_002168.4(IDH2):c.1171C>T (p.Leu391Phe) rs1247633248 0.00002
NM_002168.4(IDH2):c.1354C>G (p.Gln452Glu) rs553627406 0.00002
NM_002168.4(IDH2):c.68C>G (p.Pro23Arg) rs746881165 0.00002
NM_002168.4(IDH2):c.1129C>T (p.Arg377Cys) rs765712414 0.00001
NM_002168.4(IDH2):c.1156G>C (p.Asp386His) rs774323865 0.00001
NM_002168.4(IDH2):c.1259A>T (p.His420Leu) rs748291315 0.00001
NM_002168.4(IDH2):c.223G>A (p.Val75Met) rs956543166 0.00001
NM_002168.4(IDH2):c.373+5G>A rs1901004338 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
NC_000015.9:g.(?_89379429)_(91312836_?)del
NC_000015.9:g.(?_89379429)_(91565479_?)dup
NC_000015.9:g.(?_90627498)_(90634896_?)dup
NC_000015.9:g.(?_90645488)_(90645622_?)dup
NM_002168.4(IDH2):c.1010C>T (p.Pro337Leu)
NM_002168.4(IDH2):c.1022C>A (p.Thr341Lys)
NM_002168.4(IDH2):c.104C>A (p.Pro35Gln)
NM_002168.4(IDH2):c.1051G>A (p.Val351Ile)
NM_002168.4(IDH2):c.1081-3C>T rs1425884416
NM_002168.4(IDH2):c.1084C>T (p.Arg362Trp)
NM_002168.4(IDH2):c.1096A>T (p.Thr366Ser)
NM_002168.4(IDH2):c.109C>T (p.Arg37Cys) rs1567261734
NM_002168.4(IDH2):c.1143C>G (p.His381Gln) rs1596072062
NM_002168.4(IDH2):c.1152G>C (p.Lys384Asn)
NM_002168.4(IDH2):c.1178G>A (p.Arg393Lys) rs1340166037
NM_002168.4(IDH2):c.1179-3T>A rs772170724
NM_002168.4(IDH2):c.1210G>C (p.Glu404Gln)
NM_002168.4(IDH2):c.1255A>G (p.Ile419Val)
NM_002168.4(IDH2):c.1266C>T (p.Leu422=)
NM_002168.4(IDH2):c.1271+13G>C
NM_002168.4(IDH2):c.1271+3G>A
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)
NM_002168.4(IDH2):c.1358A>G (p.Ter453Trp)
NM_002168.4(IDH2):c.137T>A (p.Val46Glu) rs1418340668
NM_002168.4(IDH2):c.140C>T (p.Ala47Val)
NM_002168.4(IDH2):c.145C>G (p.Pro49Ala)
NM_002168.4(IDH2):c.148G>A (p.Val50Met)
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)
NM_002168.4(IDH2):c.29C>T (p.Ser10Leu) rs1234438811
NM_002168.4(IDH2):c.320A>G (p.Tyr107Cys) rs1596076050
NM_002168.4(IDH2):c.338G>T (p.Cys113Phe)
NM_002168.4(IDH2):c.365G>C (p.Arg122Pro)
NM_002168.4(IDH2):c.373+11G>A
NM_002168.4(IDH2):c.388A>C (p.Lys130Gln)
NM_002168.4(IDH2):c.389A>T (p.Lys130Met) rs529638451
NM_002168.4(IDH2):c.407A>T (p.Asn136Ile)
NM_002168.4(IDH2):c.423_424insT (p.Ile142fs)
NM_002168.4(IDH2):c.425T>C (p.Ile142Thr)
NM_002168.4(IDH2):c.475C>T (p.Arg159Cys)
NM_002168.4(IDH2):c.47G>A (p.Gly16Asp)
NM_002168.4(IDH2):c.513C>T (p.Gly171=)
NM_002168.4(IDH2):c.534+2T>C rs2151549498
NM_002168.4(IDH2):c.582G>A (p.Met194Ile)
NM_002168.4(IDH2):c.608G>A (p.Gly203Asp)
NM_002168.4(IDH2):c.629A>G (p.Tyr210Cys)
NM_002168.4(IDH2):c.62G>A (p.Trp21Ter)
NM_002168.4(IDH2):c.638C>T (p.Pro213Leu)
NM_002168.4(IDH2):c.640G>A (p.Ala214Thr)
NM_002168.4(IDH2):c.657G>A (p.Met219Ile)
NM_002168.4(IDH2):c.661A>G (p.Met221Val)
NM_002168.4(IDH2):c.675C>A (p.Asp225Glu)
NM_002168.4(IDH2):c.676G>A (p.Glu226Lys)
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.731G>C (p.Trp244Ser)
NM_002168.4(IDH2):c.734C>T (p.Pro245Leu) rs1900894030
NM_002168.4(IDH2):c.742A>C (p.Met248Leu)
NM_002168.4(IDH2):c.742A>G (p.Met248Val)
NM_002168.4(IDH2):c.807dup (p.Phe270fs)
NM_002168.4(IDH2):c.821A>G (p.Tyr274Cys)
NM_002168.4(IDH2):c.827C>T (p.Thr276Ile)
NM_002168.4(IDH2):c.840G>C (p.Lys280Asn)
NM_002168.4(IDH2):c.849C>G (p.Ile283Met)
NM_002168.4(IDH2):c.877A>C (p.Met293Leu) rs1900881296
NM_002168.4(IDH2):c.88A>T (p.Thr30Ser)
NM_002168.4(IDH2):c.905G>C (p.Gly302Ala)
NM_002168.4(IDH2):c.923G>C (p.Cys308Ser) rs1344620365
NM_002168.4(IDH2):c.967+2T>C rs2151547972

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