ClinVar Miner

List of variants reported as benign for Noonan syndrome and Noonan-related syndrome by Genome Diagnostics Laboratory, The Hospital for Sick Children

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_033360.4(KRAS):c.*633T>C rs9266 0.49333
NM_033360.4(KRAS):c.*4200T>A rs12245 0.48134
NM_033360.4(KRAS):c.*298T>G rs712 0.46850
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34066
NM_033360.4(KRAS):c.*2626T>G rs61764370 0.06122
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_030662.4(MAP2K2):c.-243C>T rs181533374 0.04405
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03624
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_006767.4(LZTR1):c.1962C>T (p.Asp654=) rs1131176 0.02850
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02070
NM_005188.4(CBL):c.869+4A>G rs77284821 0.01907
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01880
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=) rs143758478 0.01424
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01205
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_152594.3(SPRED1):c.-93C>T rs192699510 0.00724
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00712
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00637
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00552
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00523
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00416
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00373
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00366
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00332
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_006767.4(LZTR1):c.2373C>T (p.His791=) rs148993324 0.00299
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00282
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00258
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00238
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=) rs117346988 0.00218
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00208
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00188
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00175
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00111
NM_006767.4(LZTR1):c.-6C>T rs188063382 0.00099
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_006767.4(LZTR1):c.1353+8C>G rs75959644 0.00094
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00071
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_006767.4(LZTR1):c.453C>T (p.Asp151=) rs142421078 0.00069
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00062
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00058
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00050
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=) rs145303406 0.00044
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00040
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00034
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00033
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00030
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00025
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00023
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00023
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_006767.4(LZTR1):c.450C>T (p.Asn150=) rs560328641 0.00019
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00018
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_006767.4(LZTR1):c.263+7G>A rs185749722 0.00014
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00012
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00012
NM_006767.4(LZTR1):c.351C>T (p.Pro117=) rs202066345 0.00012
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00010
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00009
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755 0.00009
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00008
NM_152594.3(SPRED1):c.290A>G (p.Lys97Arg) rs556636985 0.00007
NM_006767.4(LZTR1):c.21G>A (p.Thr7=) rs377622689 0.00006
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00005
NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met) rs533247725 0.00005
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1621T>C (p.Leu541=) rs371286473 0.00004
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742 0.00004
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_030662.4(MAP2K2):c.141C>T (p.Asp47=) rs201526172 0.00003
NM_152594.3(SPRED1):c.1225G>T (p.Ala409Ser) rs762735151 0.00003
NM_152594.3(SPRED1):c.1226C>T (p.Ala409Val) rs751260227 0.00003
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00002
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 0.00001
NM_152594.3(SPRED1):c.1046G>C (p.Arg349Thr) rs1221405249 0.00001
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002880.4(RAF1):c.1668+10_1668+11del rs730880997
NM_004333.6(BRAF):c.2128-16_2128-7del rs766844227
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_006767.4(LZTR1):c.321-14_321-3del rs137977968
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.973-5del rs730881016

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