List of variants reported as benign for RASopathy by Mendelics

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	rs17887014	0.00305
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)	rs146051850	0.00032
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)	rs145611571	0.00016
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)	rs377393842	0.00006
NM_000267.3(NF1):c.730+32dup	rs71142032
NM_001042492.3(NF1):c.3198-4dup	rs371047262
NM_001042492.3(NF1):c.3974+23A>T	rs376217184
NM_001042492.3(NF1):c.4578-12dup	rs1597748630

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.