Variants with conflicting interpretations "uncertain significance" from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University and "pathogenic" from Baylor Genetics

Minimum review status of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University:		Collection method of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos 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_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)	rs775006954	0.00011
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)	rs746598421	0.00004
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	rs139851890	0.00001
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	rs121913485

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.