ClinVar Miner

List of variants studied for L-2-hydroxyglutaric aciduria by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_024884.3(L2HGDH):c.703+12T>C rs12433038 0.50530
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_024884.3(L2HGDH):c.738+15G>A rs73275195 0.00809
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_024884.3(L2HGDH):c.408+14T>C rs77736285 0.00215
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) rs201806251 0.00145
NM_024884.3(L2HGDH):c.1064+5C>T rs77236437 0.00130
NM_024884.3(L2HGDH):c.510G>A (p.Glu170=) rs151305613 0.00106
NM_024884.3(L2HGDH):c.409-4G>T rs767524925 0.00072
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=) rs141562044 0.00060
NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu) rs148241854 0.00040
NM_024884.3(L2HGDH):c.830G>A (p.Arg277Gln) rs147866347 0.00030
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112 0.00021
NM_024884.3(L2HGDH):c.764T>C (p.Val255Ala) rs376132802 0.00021
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323 0.00018
NM_024884.3(L2HGDH):c.663T>C (p.Gly221=) rs201951588 0.00017
NM_024884.3(L2HGDH):c.1376A>G (p.Gln459Arg) rs375890787 0.00015
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) rs368140834 0.00013
NM_024884.3(L2HGDH):c.713A>G (p.Tyr238Cys) rs149220807 0.00012
NM_024884.3(L2HGDH):c.1155T>G (p.Leu385=) rs141715606 0.00010
NM_024884.3(L2HGDH):c.246G>A (p.Glu82=) rs138070052 0.00010
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) rs373172891 0.00009
NM_024884.3(L2HGDH):c.36C>T (p.Cys12=) rs546802749 0.00008
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) rs192927318 0.00007
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) rs140209047 0.00006
NM_024884.3(L2HGDH):c.479G>A (p.Gly160Asp) rs761645660 0.00006
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358 0.00006
NM_024884.3(L2HGDH):c.152T>C (p.Ile51Thr) rs760247218 0.00005
NM_024884.3(L2HGDH):c.289A>T (p.Ile97Leu) rs138626765 0.00005
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe) rs770542189 0.00005
NM_024884.3(L2HGDH):c.547A>G (p.Met183Val) rs540187537 0.00005
NM_024884.3(L2HGDH):c.1312G>A (p.Ala438Thr) rs777120544 0.00004
NM_024884.3(L2HGDH):c.738+5A>C rs749417245 0.00004
NM_024884.3(L2HGDH):c.852T>C (p.Asp284=) rs200003497 0.00004
NM_024884.3(L2HGDH):c.919C>T (p.Arg307Trp) rs750803606 0.00004
NM_024884.3(L2HGDH):c.1047G>A (p.Met349Ile) rs746089124 0.00003
NM_024884.3(L2HGDH):c.11C>G (p.Ala4Gly) rs376354488 0.00003
NM_024884.3(L2HGDH):c.720T>C (p.Ile240=) rs111946925 0.00003
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln) rs765312282 0.00003
NM_024884.3(L2HGDH):c.987A>G (p.Ala329=) rs146196275 0.00003
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496 0.00002
NM_024884.3(L2HGDH):c.118G>C (p.Gly40Arg) rs1184011271 0.00002
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys) rs754748944 0.00002
NM_024884.3(L2HGDH):c.531A>G (p.Pro177=) rs1566533666 0.00002
NM_024884.3(L2HGDH):c.623A>G (p.Glu208Gly) rs375493375 0.00002
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903 0.00002
NM_024884.3(L2HGDH):c.752G>A (p.Arg251Gln) rs767037296 0.00002
NM_024884.3(L2HGDH):c.949C>A (p.Pro317Thr) rs762791811 0.00002
NM_024884.3(L2HGDH):c.1197-20C>T rs762276542 0.00001
NM_024884.3(L2HGDH):c.160G>A (p.Val54Ile) rs767231867 0.00001
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) rs937345512 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_024884.3(L2HGDH):c.284G>A (p.Gly95Asp) rs1227367592 0.00001
NM_024884.3(L2HGDH):c.399G>A (p.Gln133=) rs1198087421 0.00001
NM_024884.3(L2HGDH):c.409-20T>C rs200340479 0.00001
NM_024884.3(L2HGDH):c.418G>C (p.Ala140Pro) rs759631551 0.00001
NM_024884.3(L2HGDH):c.486G>A (p.Pro162=) rs201124642 0.00001
NM_024884.3(L2HGDH):c.530C>T (p.Pro177Leu) rs375943748 0.00001
NM_024884.3(L2HGDH):c.600G>A (p.Leu200=) rs748499389 0.00001
NM_024884.3(L2HGDH):c.69C>G (p.Ser23=) rs757365260 0.00001
NM_024884.3(L2HGDH):c.739-5A>G rs1368025048 0.00001
NM_024884.3(L2HGDH):c.816C>T (p.Cys272=) rs927773441 0.00001
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter) rs752025180 0.00001
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020 0.00001
NM_024884.3(L2HGDH):c.907-13G>A rs746609687 0.00001
NM_024884.3(L2HGDH):c.90G>A (p.Ala30=) rs2031254187 0.00001
NC_000014.8:g.(?_50750569)_(50750771_?)del
NC_000014.8:g.(?_50760813)_(50768906_?)del
NC_000014.8:g.(?_50768715)_(50778868_?)dup
NC_000014.8:g.(?_50778709)_(50778888_?)del
NC_000014.9:g.(?_50267733)_(50269350_?)del
NM_024884.3(L2HGDH):c.1006G>A (p.Glu336Lys)
NM_024884.3(L2HGDH):c.1018C>T (p.Pro340Ser)
NM_024884.3(L2HGDH):c.1024G>A (p.Asp342Asn)
NM_024884.3(L2HGDH):c.1064+13_1064+16del
NM_024884.3(L2HGDH):c.1064+1G>A
NM_024884.3(L2HGDH):c.1065-13dup rs780995124
NM_024884.3(L2HGDH):c.1065-14T>G
NM_024884.3(L2HGDH):c.1065-14_1065-13del rs780995124
NM_024884.3(L2HGDH):c.1065-2A>G
NM_024884.3(L2HGDH):c.106C>A (p.Pro36Thr) rs2031253004
NM_024884.3(L2HGDH):c.1082C>A (p.Ala361Glu)
NM_024884.3(L2HGDH):c.1099T>C (p.Tyr367His) rs1222573122
NM_024884.3(L2HGDH):c.1118A>G (p.Tyr373Cys)
NM_024884.3(L2HGDH):c.111G>A (p.Leu37=)
NM_024884.3(L2HGDH):c.1130T>C (p.Phe377Ser)
NM_024884.3(L2HGDH):c.1143A>G (p.Thr381=)
NM_024884.3(L2HGDH):c.1153C>T (p.Leu385Phe) rs2139970112
NM_024884.3(L2HGDH):c.115G>A (p.Gly39Arg) rs2139246630
NM_024884.3(L2HGDH):c.1187A>G (p.Asp396Gly) rs1426651193
NM_024884.3(L2HGDH):c.118G>A (p.Gly40Ser)
NM_024884.3(L2HGDH):c.1196+20A>C
NM_024884.3(L2HGDH):c.1197-17A>T
NM_024884.3(L2HGDH):c.1200C>T (p.Gly400=)
NM_024884.3(L2HGDH):c.1210G>C (p.Val404Leu) rs2139922904
NM_024884.3(L2HGDH):c.121A>G (p.Ser41Gly)
NM_024884.3(L2HGDH):c.122G>A (p.Ser41Asn)
NM_024884.3(L2HGDH):c.1230T>C (p.Asp410=)
NM_024884.3(L2HGDH):c.1258G>A (p.Val420Ile)
NM_024884.3(L2HGDH):c.1267G>A (p.Ala423Thr) rs1888055860
NM_024884.3(L2HGDH):c.1271G>A (p.Gly424Glu) rs1888055214
NM_024884.3(L2HGDH):c.1276G>A (p.Gly426Arg)
NM_024884.3(L2HGDH):c.1285G>A (p.Gly429Arg) rs751508205
NM_024884.3(L2HGDH):c.1300C>G (p.His434Asp)
NM_024884.3(L2HGDH):c.1323del (p.Ala442fs) rs2139922335
NM_024884.3(L2HGDH):c.1339A>G (p.Ile447Val)
NM_024884.3(L2HGDH):c.1342G>C (p.Ala448Pro)
NM_024884.3(L2HGDH):c.1379G>T (p.Arg460Ile)
NM_024884.3(L2HGDH):c.1383T>C (p.Phe461=) rs2139922124
NM_024884.3(L2HGDH):c.140+17C>G
NM_024884.3(L2HGDH):c.140+3G>C
NM_024884.3(L2HGDH):c.141-16T>A
NM_024884.3(L2HGDH):c.141-20A>C
NM_024884.3(L2HGDH):c.147T>G (p.Phe49Leu)
NM_024884.3(L2HGDH):c.166G>A (p.Gly56Ser) rs1193487271
NM_024884.3(L2HGDH):c.167G>A (p.Gly56Asp) rs2139215771
NM_024884.3(L2HGDH):c.168C>T (p.Gly56=)
NM_024884.3(L2HGDH):c.178G>A (p.Gly60Arg)
NM_024884.3(L2HGDH):c.184G>A (p.Ala62Thr)
NM_024884.3(L2HGDH):c.190G>C (p.Ala64Pro)
NM_024884.3(L2HGDH):c.19T>C (p.Tyr7His)
NM_024884.3(L2HGDH):c.207G>C (p.Leu69=)
NM_024884.3(L2HGDH):c.216A>G (p.Pro72=) rs2139215566
NM_024884.3(L2HGDH):c.226A>G (p.Ile76Val)
NM_024884.3(L2HGDH):c.241A>G (p.Lys81Glu)
NM_024884.3(L2HGDH):c.256+2T>A
NM_024884.3(L2HGDH):c.256+3A>G
NM_024884.3(L2HGDH):c.257-9G>C
NM_024884.3(L2HGDH):c.258T>A (p.Ala86=) rs1020944884
NM_024884.3(L2HGDH):c.262C>T (p.His88Tyr) rs2030450370
NM_024884.3(L2HGDH):c.264C>T (p.His88=)
NM_024884.3(L2HGDH):c.274C>T (p.His92Tyr) rs1011866950
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.378A>G (p.Gln126=)
NM_024884.3(L2HGDH):c.405C>G (p.Gly135=)
NM_024884.3(L2HGDH):c.408+13del
NM_024884.3(L2HGDH):c.408+15T>C
NM_024884.3(L2HGDH):c.408+7C>T
NM_024884.3(L2HGDH):c.409-15dup rs368650202
NM_024884.3(L2HGDH):c.409-5del rs368650202
NM_024884.3(L2HGDH):c.433G>A (p.Glu145Lys) rs1403658578
NM_024884.3(L2HGDH):c.446T>G (p.Leu149Arg)
NM_024884.3(L2HGDH):c.453C>A (p.Ala151=) rs2029899900
NM_024884.3(L2HGDH):c.477T>G (p.Asn159Lys) rs2139192896
NM_024884.3(L2HGDH):c.485C>T (p.Pro162Leu)
NM_024884.3(L2HGDH):c.498G>C (p.Leu166=)
NM_024884.3(L2HGDH):c.522G>A (p.Lys174=)
NM_024884.3(L2HGDH):c.530_533delinsATT (p.Pro177fs)
NM_024884.3(L2HGDH):c.537T>C (p.Cys179=)
NM_024884.3(L2HGDH):c.540+19G>A
NM_024884.3(L2HGDH):c.540+20A>G
NM_024884.3(L2HGDH):c.541-12A>C
NM_024884.3(L2HGDH):c.574A>G (p.Ile192Val) rs755942764
NM_024884.3(L2HGDH):c.587G>C (p.Arg196Pro) rs767481066
NM_024884.3(L2HGDH):c.603A>G (p.Ser201=)
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser) rs574500803
NM_024884.3(L2HGDH):c.688T>C (p.Ser230Pro)
NM_024884.3(L2HGDH):c.68C>A (p.Ser23Tyr)
NM_024884.3(L2HGDH):c.703+13del rs768868129
NM_024884.3(L2HGDH):c.704-4dup rs775844474
NM_024884.3(L2HGDH):c.735A>G (p.Thr245=)
NM_024884.3(L2HGDH):c.738+16C>A
NM_024884.3(L2HGDH):c.738G>A (p.Lys246=) rs771091083
NM_024884.3(L2HGDH):c.739-12A>G
NM_024884.3(L2HGDH):c.739-20_739-19del
NM_024884.3(L2HGDH):c.750T>C (p.Ile250=) rs2139982392
NM_024884.3(L2HGDH):c.751C>T (p.Arg251Ter)
NM_024884.3(L2HGDH):c.779G>T (p.Gly260Val) rs776859735
NM_024884.3(L2HGDH):c.77C>T (p.Ala26Val)
NM_024884.3(L2HGDH):c.781C>T (p.Leu261Phe)
NM_024884.3(L2HGDH):c.792C>G (p.Asp264Glu)
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His) rs748747271
NM_024884.3(L2HGDH):c.803A>T (p.Glu268Val)
NM_024884.3(L2HGDH):c.807G>A (p.Leu269=)
NM_024884.3(L2HGDH):c.826C>T (p.Pro276Ser)
NM_024884.3(L2HGDH):c.833T>C (p.Ile278Thr) rs763449413
NM_024884.3(L2HGDH):c.844C>T (p.Arg282Trp)
NM_024884.3(L2HGDH):c.845G>C (p.Arg282Pro)
NM_024884.3(L2HGDH):c.853del (p.Tyr285fs) rs748910382
NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter) rs1889521207
NM_024884.3(L2HGDH):c.906+18C>T
NM_024884.3(L2HGDH):c.906+5G>T
NM_024884.3(L2HGDH):c.906+7A>G
NM_024884.3(L2HGDH):c.920G>A (p.Arg307Gln)
NM_024884.3(L2HGDH):c.928T>G (p.Phe310Val)
NM_024884.3(L2HGDH):c.944del (p.Phe315fs)
NM_024884.3(L2HGDH):c.948A>G (p.Thr316=)
NM_024884.3(L2HGDH):c.978G>T (p.Gly326=)
NM_024884.3(L2HGDH):c.994G>A (p.Ala332Thr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.