List of variants in gene RAF1 studied for LEOPARD syndrome 2; Noonan syndrome 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)	rs730881004	0.00006
NM_002880.4(RAF1):c.61G>A (p.Val21Met)	rs752484962	0.00001
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg)	rs587777587
NM_002880.4(RAF1):c.1A>G (p.Met1Val)	rs2125453796
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)	rs886039607

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.