List of variants in gene SOS1 reported as likely pathogenic for Noonan syndrome

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)	rs397517146
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg)	rs1572830693
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)	rs397517154
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val)	rs727505093
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)	rs1553353452
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His)	rs397517163
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)	rs397517164
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg)	rs397517166
NM_005633.4(SOS1):c.512T>C (p.Val171Ala)	rs397517174

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.