ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Elsea Laboratory, Baylor College of Medicine and "likely benign" from any submitter

Minimum review status of the submission from Elsea Laboratory, Baylor College of Medicine: Collection method of the submission from Elsea Laboratory, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387 0.00121
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00018
NM_000045.4(ARG1):c.745G>C (p.Val249Leu) rs182650447

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.