ClinVar Miner

List of variants reported as not provided for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter) rs796064514

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.