ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
HLCS, 1-BP DEL, 780G
NM_000411.8(HLCS):c.1055T>A (p.Leu352Ter)
NM_000411.8(HLCS):c.1135C>T (p.Gln379Ter) rs1393866282
NM_000411.8(HLCS):c.1519+5G>A rs753887925
NM_000411.8(HLCS):c.1522C>T (p.Arg508Trp) rs119103229
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1648G>A (p.Val550Met) rs119103231
NM_000411.8(HLCS):c.1693C>T (p.Arg565Ter) rs772791252
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000411.8(HLCS):c.1741G>A (p.Gly581Ser) rs119103230
NM_000411.8(HLCS):c.250G>T (p.Glu84Ter) rs1569218416
NM_000411.8(HLCS):c.584dup (p.Tyr195Ter)
NM_000411.8(HLCS):c.604G>T (p.Glu202Ter)
NM_000411.8(HLCS):c.647T>G (p.Leu216Arg) rs28934602
NM_000411.8(HLCS):c.655dup (p.Ile219fs) rs773102942
NM_000411.8(HLCS):c.710T>C (p.Leu237Pro) rs119103227
NM_000411.8(HLCS):c.782del (p.Gly261fs) rs771944310

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.