List of variants reported as benign for Noonan syndrome by Illumina Laboratory Services, Illumina

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: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.*2567T>A	rs6704656	0.94064
NM_005633.4(SOS1):c.*1844A>G	rs10166395	0.80685
NM_005633.4(SOS1):c.*3918T>C	rs1043793	0.79061
NM_005633.4(SOS1):c.*3539T>C	rs1037495	0.79060
NM_005633.4(SOS1):c.*328A>G	rs1059310	0.52005
NM_004333.6(BRAF):c.1929A>G (p.Gly643=)	rs9648696	0.30796
NM_002524.5(NRAS):c.*872C>T	rs14804	0.20324
NM_005633.4(SOS1):c.*805C>A	rs1059313	0.14564
NM_002834.5(PTPN11):c.-273G>A	rs58805176	0.10884
NM_004985.5(KRAS):c.451-9G>A	rs12313763	0.08467
NM_005633.4(SOS1):c.*3724T>C	rs11124658	0.04952
NM_002834.5(PTPN11):c.1093-9C>A	rs12301915	0.04151
NM_005633.4(SOS1):c.195A>C (p.Arg65=)	rs7609455	0.03809
NM_002524.5(NRAS):c.*687A>G	rs9724644	0.02952
NM_002524.5(NRAS):c.*2662G>A	rs148827219	0.02701
NM_002524.5(NRAS):c.*2667T>C	rs145382662	0.02698
NM_002834.5(PTPN11):c.255C>T (p.His85=)	rs61736914	0.02271
NM_002834.5(PTPN11):c.*670G>A	rs112287134	0.01588
NM_002880.4(RAF1):c.*348T>C	rs5746247	0.01554
NM_002880.4(RAF1):c.-281C>G	rs61761285	0.01090
NM_004333.6(BRAF):c.*387G>A	rs114105685	0.00981
NM_002834.5(PTPN11):c.*1374G>C	rs139266170	0.00836
NM_002834.5(PTPN11):c.*2927T>A	rs190612693	0.00828
NM_002880.4(RAF1):c.1669-13T>C	rs147475396	0.00819
NM_005633.4(SOS1):c.1230G>A (p.Gln410=)	rs141390073	0.00217
NM_002524.5(NRAS):c.*3384C>T	rs140049110	0.00091
NM_002524.5(NRAS):c.*740G>A	rs372008962	0.00007
NM_002524.5(NRAS):c.*346G>A	rs9724642
NM_002880.4(RAF1):c.*266C>T	rs1051208
NM_002880.4(RAF1):c.*83C>T	rs2229757

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.