List of variants reported as uncertain significance for L-2-hydroxyglutaric aciduria by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 91

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.1376A>G (p.Gln459Arg)	rs375890787	0.00015
NM_024884.3(L2HGDH):c.713A>G (p.Tyr238Cys)	rs149220807	0.00012
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp)	rs368140834	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.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.70C>T (p.Pro24Ser)	rs749417358	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.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.845G>A (p.Arg282Gln)	rs765312282	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.623A>G (p.Glu208Gly)	rs375493375	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.160G>A (p.Val54Ile)	rs767231867	0.00001
NM_024884.3(L2HGDH):c.284G>A (p.Gly95Asp)	rs1227367592	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
NC_000014.8:g.(?_50768715)_(50778868_?)dup
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.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.1130T>C (p.Phe377Ser)
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.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.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.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.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.226A>G (p.Ile76Val)
NM_024884.3(L2HGDH):c.256+3A>G
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.274C>T (p.His92Tyr)	rs1011866950
NM_024884.3(L2HGDH):c.433G>A (p.Glu145Lys)	rs1403658578
NM_024884.3(L2HGDH):c.446T>G (p.Leu149Arg)
NM_024884.3(L2HGDH):c.477T>G (p.Asn159Lys)	rs2139192896
NM_024884.3(L2HGDH):c.485C>T (p.Pro162Leu)
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.688T>C (p.Ser230Pro)
NM_024884.3(L2HGDH):c.68C>A (p.Ser23Tyr)
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.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.906+5G>T
NM_024884.3(L2HGDH):c.920G>A (p.Arg307Gln)
NM_024884.3(L2HGDH):c.928T>G (p.Phe310Val)
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.