ClinVar Miner

List of variants in gene ABCD4 studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
ABCD4, 1456G-T
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
NM_005050.4(ABCD4):c.542+1G>T rs769364566
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056

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.