ClinVar Miner

List of variants reported as benign for 2-hydroxyglutaric aciduria

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.292+28T>G rs62191977 0.74780
NM_152783.5(D2HGDH):c.-99A>G rs7370843 0.70817
NM_152783.5(D2HGDH):c.1307-24A>G rs6756901 0.61160
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57826
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_152783.5(D2HGDH):c.854-1200C>T rs35386923 0.53647
NM_024884.3(L2HGDH):c.703+12T>C rs12433038 0.50530
NM_152783.5(D2HGDH):c.*449C>T rs4234096 0.49853
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
NM_152783.5(D2HGDH):c.490+40T>C rs78147778 0.27008
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.*801A>G rs35671465 0.16469
NM_152783.5(D2HGDH):c.*778C>T rs6746151 0.15209
NM_152783.5(D2HGDH):c.*254G>A rs6713318 0.13504
NM_152783.5(D2HGDH):c.*93T>C rs11552660 0.10660
NM_152783.5(D2HGDH):c.*688G>A rs6716743 0.08600
NM_002168.4(IDH2):c.996C>T (p.Ser332=) rs61737003 0.07655
NM_152783.5(D2HGDH):c.*661C>T rs113372064 0.06400
NM_002168.4(IDH2):c.1050C>T (p.Thr350=) rs11540478 0.05301
NM_152783.5(D2HGDH):c.-91C>G rs62191976 0.04794
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.*427G>A rs142873084 0.01193
NM_002168.4(IDH2):c.993G>A (p.Thr331=) rs61737002 0.01104
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558 0.01014
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=) rs72683923 0.01007
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_002168.4(IDH2):c.429G>C (p.Leu143=) rs144712130 0.00824
NM_024884.3(L2HGDH):c.738+15G>A rs73275195 0.00809
NM_152783.5(D2HGDH):c.*26C>T rs141211991 0.00666
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.*27C>T rs150707660 0.00382
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) rs118053940 0.00372
NM_002168.4(IDH2):c.207+4G>A rs77995170 0.00331
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_002168.4(IDH2):c.1302C>G (p.Thr434=) rs150574164 0.00323
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_152783.5(D2HGDH):c.1307-19T>C rs113076082 0.00319
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_152783.5(D2HGDH):c.1307-15C>T rs111836685 0.00311
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524 0.00297
NM_002168.4(IDH2):c.939A>G (p.Gly313=) rs16943901 0.00280
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371 0.00267
NM_002168.4(IDH2):c.327G>A (p.Val109=) rs150943639 0.00257
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235 0.00235
NM_024884.3(L2HGDH):c.408+14T>C rs77736285 0.00215
NM_152783.5(D2HGDH):c.*266G>A rs145823152 0.00209
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303 0.00176
NM_002168.4(IDH2):c.782G>A (p.Arg261His) rs118101777 0.00163
NM_002168.4(IDH2):c.16C>A (p.Arg6=) rs549177872 0.00146
NM_152783.5(D2HGDH):c.490+16C>T rs375775579 0.00116
NM_024884.3(L2HGDH):c.510G>A (p.Glu170=) rs151305613 0.00106
NM_152783.5(D2HGDH):c.491-18C>T rs369380533 0.00101
NM_002168.4(IDH2):c.1081-13C>T rs112703257 0.00081
NM_002168.4(IDH2):c.648C>T (p.Gly216=) rs61733007 0.00069
NM_002168.4(IDH2):c.1038C>T (p.Ala346=) rs190078206 0.00049
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174 0.00038
NM_002168.4(IDH2):c.942T>C (p.Asp314=) rs142721369 0.00025
NM_002168.4(IDH2):c.27C>T (p.Arg9=) rs773877161 0.00020
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258 0.00019
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323 0.00018
NM_002168.4(IDH2):c.967+18del rs767324925 0.00013
NM_152783.5(D2HGDH):c.93G>T (p.Leu31=) rs375720367 0.00012
NM_002168.4(IDH2):c.1101C>T (p.Asn367=) rs751677526 0.00011
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) rs192927318 0.00007
NM_002168.4(IDH2):c.312C>T (p.Thr104=) rs200994809 0.00006
NM_002168.4(IDH2):c.1284C>T (p.Asn428=) rs191547948 0.00002
NM_002168.4(IDH2):c.374-17T>C rs566198467 0.00001
NM_152783.5(D2HGDH):c.432C>T (p.Asp144=) rs541023216 0.00001
NM_152783.5(D2HGDH):c.490+20C>T rs771839448 0.00001
NM_002168.4(IDH2):c.1081-9C>T
NM_002168.4(IDH2):c.1081-9dup
NM_024884.3(L2HGDH):c.1065-13dup rs780995124
NM_024884.3(L2HGDH):c.1065-14_1065-13del rs780995124
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.409-15dup rs368650202
NM_024884.3(L2HGDH):c.409-5del rs368650202
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser) rs574500803
NM_024884.3(L2HGDH):c.704-4dup rs775844474
NM_152783.5(D2HGDH):c.*433G>T rs146545933
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.293-18A>G rs4073889
NM_152783.5(D2HGDH):c.350+19del rs561094508
NM_152783.5(D2HGDH):c.997+13del rs1307856808

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