List of variants reported as likely pathogenic by The Raphael Recanati Genetics Institute, Rabin Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu)	rs769522583
NM_002074.5(GNB1):c.158G>A (p.Gly53Glu)	rs1557898800
NM_014209.4(ETV2):c.350del (p.Gly117fs)	rs755996862
NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)	rs371833362
NM_031844.3(HNRNPU):c.1230+5G>A	rs1553282723
NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln)	rs1466835034

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.