ClinVar Miner

List of variants studied for classic organic aciduria by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671

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.