ClinVar Miner

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

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_001354689.3(RAF1):c.*266C>T rs1051208
NM_001354689.3(RAF1):c.*348T>C rs5746247
NM_001354689.3(RAF1):c.*83C>T rs2229757
NM_001354689.3(RAF1):c.-281C>G rs61761285
NM_001354689.3(RAF1):c.1729-13T>C rs147475396
NM_001374258.1(BRAF):c.2049A>G (p.Gly683=) rs9648696
NM_002524.5(NRAS):c.*2662G>A rs148827219
NM_002524.5(NRAS):c.*2667T>C rs145382662
NM_002524.5(NRAS):c.*3384C>T rs140049110
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002524.5(NRAS):c.*687A>G
NM_002524.5(NRAS):c.*740G>A rs372008962
NM_002524.5(NRAS):c.*872C>T rs14804
NM_002834.4(PTPN11):c.*1374G>C rs139266170
NM_002834.4(PTPN11):c.*2927T>A rs190612693
NM_002834.4(PTPN11):c.*670G>A rs112287134
NM_002834.4(PTPN11):c.-273G>A rs58805176
NM_002834.5(PTPN11):c.1093-9C>A rs12301915
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_005633.3(SOS1):c.*1844A>G rs10166395
NM_005633.3(SOS1):c.*2567T>A rs6704656
NM_005633.3(SOS1):c.*328A>G rs1059310
NM_005633.3(SOS1):c.*3539T>C rs1037495
NM_005633.3(SOS1):c.*3724T>C rs11124658
NM_005633.3(SOS1):c.*3918T>C rs1043793
NM_005633.3(SOS1):c.*805C>A rs1059313
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_033360.4(KRAS):c.*5-9G>A rs12313763

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.