List of variants in gene BRAF studied for Noonan syndrome with multiple lentigines

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp)	rs1273585752	0.00001
NM_004333.6(BRAF):c.2128-16_2128-15del	rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT	rs886062016
NM_004333.6(BRAF):c.2128-28dup	rs60814637
NM_004333.6(BRAF):c.2128-4del	rs886062014
NM_004333.6(BRAF):c.2128-5del	rs373442098
NM_004333.6(BRAF):c.2128-5dup	rs373442098
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	rs387906661
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)	rs397507466

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.