List of variants studied for Noonan syndrome by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)	rs1321926273	0.00001
NM_006767.4(LZTR1):c.-38T>A	rs1459786357	0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)	rs753295968	0.00001
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	rs121913250
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	rs397507510
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002880.4(RAF1):c.788T>C (p.Val263Ala)	rs397516830
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	rs397517172
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)	rs751308379
NM_006767.4(LZTR1):c.27del (p.Gln10fs)	rs587777613
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686

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.