ClinVar Miner

List of variants in gene HLCS reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 172
Download table as spreadsheet
HGVS dbSNP
NM_001352514.2(HLCS):c.*1324T>C rs141644229
NM_001352514.2(HLCS):c.*1589_*1592CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1725A>G rs73398120
NM_001352514.2(HLCS):c.*1744G>A rs117270429
NM_001352514.2(HLCS):c.*19C>T rs137949852
NM_001352514.2(HLCS):c.*2624G>A rs73210780
NM_001352514.2(HLCS):c.*3247A>G rs114061673
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) rs73196003
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=) rs768927843
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=) rs149877080
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=) rs776771975
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=) rs535891229
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=) rs1472760580
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) rs376903098
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=) rs143393390
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) rs139902499
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) rs200886053
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=) rs533602689
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=) rs189674085
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=) rs200631719
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-9A>G rs374646852
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=) rs141905941
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=)
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=)
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=)
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=) rs370347318
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=)
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=)
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=)
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1961-7G>C rs145472697
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=) rs757169763
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=) rs1601141038
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=)
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=)
NM_001352514.2(HLCS):c.2088C>T (p.Val696=) rs150794567
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=) rs762221640
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2121+10G>A
NM_001352514.2(HLCS):c.2121+8C>T
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=)
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=) rs375456567
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
NM_001352514.2(HLCS):c.2196T>A (p.Val732=)
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=)
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=)
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=) rs138387445
NM_001352514.2(HLCS):c.2313C>T (p.His771=)
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=)
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val) rs199517800
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=)
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=)
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=)
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=)
NM_001352514.2(HLCS):c.2450+7G>C
NM_001352514.2(HLCS):c.2451-8C>G rs373177254
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=)
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=)
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=) rs147256659
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=)
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) rs202028605
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
NM_001352514.2(HLCS):c.331-7157C>T rs149104163
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile) rs183589811
NM_001352514.2(HLCS):c.493+10T>C rs1601811088
NM_001352514.2(HLCS):c.494-7G>C
NM_001352514.2(HLCS):c.494-8T>C
NM_001352514.2(HLCS):c.494-9A>G rs376397597
NM_001352514.2(HLCS):c.504G>A (p.Leu168=)
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
NM_001352514.2(HLCS):c.516T>C (p.Thr172=)
NM_001352514.2(HLCS):c.519G>C (p.Leu173=) rs142669894
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077
NM_001352514.2(HLCS):c.741C>T (p.His247=)
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
NM_001352514.2(HLCS):c.762C>T (p.His254=)
NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) rs376665169
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001352514.2(HLCS):c.981C>T (p.His327=) rs773664058
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)

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.