ClinVar Miner

List of variants reported as likely benign for Noonan syndrome and Noonan-related syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_002709.3(PPP1CB):c.53-9G>A rs368197884 0.00172
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_030662.4(MAP2K2):c.450+17C>T rs199892711 0.00021
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_004333.6(BRAF):c.1694+13C>T rs368578780 0.00007
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1905C>T (p.Cys635=) rs762900789 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_004333.6(BRAF):c.1314+17T>C rs1057524397 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.874C>T (p.Leu292=) rs930267460 0.00001
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) rs765215499 0.00001
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) rs752115982 0.00001
NM_004333.6(BRAF):c.1992+15C>T rs766089848 0.00001
NM_004333.6(BRAF):c.298T>C (p.Leu100=) rs761709697 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_005633.4(SOS1):c.1848T>C (p.His616=) rs1344852617 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.984C>T (p.Gly328=) rs778223456 0.00001
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073

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.