ClinVar Miner

List of variants in gene IDH2 reported as likely benign for 2-hydroxyglutaric aciduria

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_002168.4(IDH2):c.993G>A (p.Thr331=) rs61737002 0.01104
NM_002168.4(IDH2):c.429G>C (p.Leu143=) rs144712130 0.00824
NM_002168.4(IDH2):c.782G>A (p.Arg261His) rs118101777 0.00163
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_002168.4(IDH2):c.141G>A (p.Ala47=) rs145802942 0.00024
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.276T>C (p.Thr92=) rs774212594 0.00013
NM_002168.4(IDH2):c.360G>A (p.Glu120=) rs536071174 0.00011
NM_002168.4(IDH2):c.1345C>T (p.Leu449=) rs148745668 0.00008
NM_002168.4(IDH2):c.207+15T>C rs760387367 0.00004
NM_002168.4(IDH2):c.207+9C>T rs753374663 0.00004
NM_002168.4(IDH2):c.1023G>A (p.Thr341=) rs370350675 0.00002
NM_002168.4(IDH2):c.535-6C>T rs760220786 0.00002
NM_002168.4(IDH2):c.639C>T (p.Pro213=) rs1409403464 0.00002
NM_002168.4(IDH2):c.1011T>G (p.Pro337=) rs1222450557 0.00001
NM_002168.4(IDH2):c.1146G>A (p.Arg382=) rs1168665757 0.00001
NM_002168.4(IDH2):c.1167A>G (p.Gln389=) rs749134763 0.00001
NM_002168.4(IDH2):c.1271+11T>C rs200898927 0.00001
NM_002168.4(IDH2):c.373+9G>T rs755607312 0.00001
NM_002168.4(IDH2):c.489C>A (p.Gly163=) rs750503834 0.00001
NM_002168.4(IDH2):c.678+19T>C rs940765473 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.753G>A (p.Lys251=) rs1458791406 0.00001
NM_002168.4(IDH2):c.903G>A (p.Ser301=) rs371460407 0.00001
NM_002168.4(IDH2):c.1059C>T (p.Arg353=)
NM_002168.4(IDH2):c.1080+18G>T
NM_002168.4(IDH2):c.1081-8G>A
NM_002168.4(IDH2):c.1131T>C (p.Arg377=)
NM_002168.4(IDH2):c.116-19T>G
NM_002168.4(IDH2):c.1178+20C>T
NM_002168.4(IDH2):c.1178+8T>C
NM_002168.4(IDH2):c.1189A>G (p.Met397Val)
NM_002168.4(IDH2):c.1194G>A (p.Leu398=) rs755291689
NM_002168.4(IDH2):c.1206C>T (p.Cys402=)
NM_002168.4(IDH2):c.1248G>A (p.Ala416=)
NM_002168.4(IDH2):c.1271+10C>T
NM_002168.4(IDH2):c.1356G>A (p.Gln452=) rs2151546163
NM_002168.4(IDH2):c.1359G>A (p.Ter453=) rs201015211
NM_002168.4(IDH2):c.141G>T (p.Ala47=) rs145802942
NM_002168.4(IDH2):c.255G>T (p.Gly85=)
NM_002168.4(IDH2):c.374-20T>C rs2151549992
NM_002168.4(IDH2):c.426C>A (p.Ile142=)
NM_002168.4(IDH2):c.427C>T (p.Leu143=) rs762170003
NM_002168.4(IDH2):c.432G>T (p.Gly144=)
NM_002168.4(IDH2):c.438T>C (p.Thr146=) rs1284288896
NM_002168.4(IDH2):c.519C>T (p.His173=)
NM_002168.4(IDH2):c.534+19G>C
NM_002168.4(IDH2):c.535-11T>C
NM_002168.4(IDH2):c.535-13C>T
NM_002168.4(IDH2):c.588C>T (p.Phe196=)
NM_002168.4(IDH2):c.679-16G>A
NM_002168.4(IDH2):c.729A>G (p.Lys243=) rs1596073596
NM_002168.4(IDH2):c.815+19A>G
NM_002168.4(IDH2):c.816-19C>T
NM_002168.4(IDH2):c.855T>C (p.Tyr285=)
NM_002168.4(IDH2):c.968-10T>C

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