ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, Heidelberg University and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Heidelberg University: Collection method of the submission from Institute of Human Genetics, Heidelberg University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala) rs866706988
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907

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.