ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.*3416_*3417del rs200892895 0.00226
NM_004985.5(KRAS):c.-160A>G rs727503111 0.00124
NM_033360.4(KRAS):c.*986T>C rs559143985 0.00120
NM_033360.4(KRAS):c.*3766A>G rs529959450 0.00108
NM_033360.4(KRAS):c.*1826C>G rs539213224 0.00073
NM_033360.4(KRAS):c.*4619T>C rs768891600 0.00035
NM_033360.4(KRAS):c.*886A>G rs886049195 0.00033
NM_033360.4(KRAS):c.*314C>T rs150334904 0.00029
NM_033360.4(KRAS):c.*1831G>A rs531344668 0.00026
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665 0.00021
NM_033360.4(KRAS):c.*4549G>C rs545014897 0.00020
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810 0.00016
NM_033360.4(KRAS):c.*3575T>C rs749403585 0.00016
NM_033360.4(KRAS):c.*3672C>G rs188922523 0.00016
NM_033360.4(KRAS):c.-180G>A rs886049201 0.00016
NM_002834.5(PTPN11):c.*2731G>A rs768622106 0.00013
NM_033360.4(KRAS):c.*1752A>G rs763217196 0.00012
NM_033360.4(KRAS):c.*4036A>G rs886049179 0.00011
NM_033360.4(KRAS):c.*2012T>C rs886049190 0.00010
NM_033360.4(KRAS):c.*2577G>A rs886049186 0.00008
NM_002755.4(MAP2K1):c.*148_*149del rs745540522 0.00006
NM_033360.4(KRAS):c.*1622G>A rs886049194 0.00006
NM_033360.4(KRAS):c.*2605G>A rs779071703 0.00006
NM_033360.4(KRAS):c.*2815C>T rs886049185 0.00006
NM_033360.4(KRAS):c.*297C>T rs886049197 0.00006
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188 0.00005
NM_005633.4(SOS1):c.*2503_*2506dup rs886056007 0.00004
NM_033360.4(KRAS):c.*2446G>A rs886049187 0.00004
NM_033360.4(KRAS):c.*3620C>T rs886049181 0.00004
NM_002524.4(NRAS):c.-179G>C rs886045110 0.00002
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu) rs886041231 0.00002
NM_033360.4(KRAS):c.*16T>C rs779184057 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_033360.4(KRAS):c.*1326C>T rs574966178 0.00001
NM_033360.4(KRAS):c.*1777A>G rs886049193 0.00001
NM_033360.4(KRAS):c.*2360A>G rs886049189 0.00001
NM_033360.4(KRAS):c.*4195G>A rs886049177 0.00001
NM_033360.4(KRAS):c.*4643G>A rs886049176 0.00001
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe) rs1659097188
NM_002755.4(MAP2K1):c.*917del rs886051370
NM_002755.4(MAP2K1):c.*917dup rs886051370
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002834.5(PTPN11):c.*1157ATG[13] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[16] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[17] rs80269561
NM_002834.5(PTPN11):c.*41_*46del rs886048967
NM_002834.5(PTPN11):c.*656del rs886048968
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.*729AACA[4] rs371820097
NM_002880.4(RAF1):c.*729AACA[6] rs371820097
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004985.5(KRAS):c.-176CGG[4] rs886049200
NM_005633.4(SOS1):c.*1090TTTG[1] rs886056016
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*2048_*2050dup rs761591990
NM_005633.4(SOS1):c.*2063_*2066dup rs886056011
NM_005633.4(SOS1):c.*2208dup rs886056010
NM_005633.4(SOS1):c.*298C>G rs886056021
NM_005633.4(SOS1):c.*3189_*3192del rs572584074
NM_005633.4(SOS1):c.*3566_*3568del rs886056005
NM_005633.4(SOS1):c.*696G>A rs886056018
NM_005633.4(SOS1):c.*766del rs533720751
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_033360.4(KRAS):c.*180A>G rs886049198
NM_033360.4(KRAS):c.*1893A>G rs886049192
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*3269C>T rs886049183
NM_033360.4(KRAS):c.*3323T>C rs886049182
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*4604G>A rs577486152
NM_033360.4(KRAS):c.*491C>G rs886049196
NM_033360.4(KRAS):c.*659del rs756307694
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_033360.4(KRAS):c.-128C>G rs886049199

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.