Variants with conflicting interpretations "pathogenic" from Biochemistry Laboratory of CDMU, Chengde Medical University and "likely pathogenic" from any submitter

Minimum review status of the submission from Biochemistry Laboratory of CDMU, Chengde Medical University:		Collection method of the submission from Biochemistry Laboratory of CDMU, Chengde Medical University:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu)	rs1200240274	0.00001
Single allele

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.