ClinVar Miner

List of variants studied for Noonan syndrome 4 by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 227
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2964+43C>A rs1454223 0.94284
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92405
NM_005633.4(SOS1):c.*3539T>C rs1037495 0.79504
NM_005633.4(SOS1):c.*328A>G rs1059310 0.52005
NM_005633.4(SOS1):c.*805C>A rs1059313 0.14564
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01029
NM_005633.4(SOS1):c.*3458A>C rs114232209 0.00673
NM_005633.4(SOS1):c.*3569T>C rs115465194 0.00421
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00374
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00209
NM_005633.4(SOS1):c.213+16T>C rs150536159 0.00115
NM_005633.4(SOS1):c.*44T>C rs182657531 0.00060
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00048
NM_005633.4(SOS1):c.2964+17A>G rs201906525 0.00018
NM_005633.4(SOS1):c.1489C>A (p.Arg497=) rs542368621 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005633.4(SOS1):c.214-10A>G rs371447614 0.00014
NM_005633.4(SOS1):c.87+15G>C rs375493196 0.00014
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_005633.4(SOS1):c.1269C>T (p.Asn423=) rs138459502 0.00010
NM_005633.4(SOS1):c.1566T>C (p.Asn522=) rs145325119 0.00009
NM_005633.4(SOS1):c.2510+19C>G rs375675348 0.00009
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr) rs557328600 0.00005
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00005
NM_005633.4(SOS1):c.1621T>C (p.Leu541=) rs371286473 0.00004
NM_005633.4(SOS1):c.1842G>A (p.Thr614=) rs143750479 0.00004
NM_005633.4(SOS1):c.1859-3T>C rs199727062 0.00004
NM_005633.4(SOS1):c.1905C>T (p.Cys635=) rs762900789 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_005633.4(SOS1):c.3737A>G (p.Asn1246Ser) rs374110460 0.00004
NM_005633.4(SOS1):c.510+9C>G rs553448375 0.00004
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00004
NM_005633.4(SOS1):c.1558G>A (p.Asp520Asn) rs754115060 0.00003
NM_005633.4(SOS1):c.1672A>G (p.Met558Val) rs371295853 0.00003
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00003
NM_005633.4(SOS1):c.1988T>C (p.Ile663Thr) rs1048869073 0.00003
NM_005633.4(SOS1):c.2007C>G (p.Pro669=) rs529749913 0.00003
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438 0.00003
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg) rs370528448 0.00003
NM_005633.4(SOS1):c.382G>A (p.Val128Ile) rs752402979 0.00003
NM_005633.4(SOS1):c.3942C>T (p.His1314=) rs778838515 0.00003
NM_005633.4(SOS1):c.66A>G (p.Leu22=) rs770539511 0.00003
NM_005633.4(SOS1):c.9G>A (p.Ala3=) rs566601513 0.00003
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_005633.4(SOS1):c.1251A>C (p.Leu417=) rs144027132 0.00002
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr) rs765764610 0.00002
NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln) rs483352826 0.00002
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser) rs139859866 0.00002
NM_005633.4(SOS1):c.2513G>A (p.Cys838Tyr) rs747801798 0.00002
NM_005633.4(SOS1):c.3114T>G (p.Pro1038=) rs777755307 0.00002
NM_005633.4(SOS1):c.3384T>C (p.His1128=) rs1412775460 0.00002
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val) rs56248239 0.00002
NM_005633.4(SOS1):c.3502C>G (p.Pro1168Ala) rs756406841 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_005633.4(SOS1):c.3821C>G (p.Pro1274Arg) rs886041565 0.00002
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385 0.00002
NM_005633.4(SOS1):c.599C>G (p.Thr200Ser) rs143007609 0.00002
NM_005633.4(SOS1):c.87+12G>T rs368569135 0.00002
NM_005633.4(SOS1):c.979A>G (p.Ile327Val) rs758546951 0.00002
NM_005633.4(SOS1):c.984C>T (p.Gly328=) rs778223456 0.00002
NM_005633.4(SOS1):c.1095A>G (p.Glu365=) rs767540464 0.00001
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040 0.00001
NM_005633.4(SOS1):c.1191A>G (p.Lys397=) rs770175415 0.00001
NM_005633.4(SOS1):c.1202+3G>A rs904487658 0.00001
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly) rs730881042 0.00001
NM_005633.4(SOS1):c.127G>C (p.Asp43His) rs730881052 0.00001
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu) rs138920742 0.00001
NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr) rs730881043 0.00001
NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser) rs397517151 0.00001
NM_005633.4(SOS1):c.143T>C (p.Val48Ala) rs373898570 0.00001
NM_005633.4(SOS1):c.1458A>G (p.Ala486=) rs772746896 0.00001
NM_005633.4(SOS1):c.1564A>C (p.Asn522His) rs761094509 0.00001
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr) rs146722878 0.00001
NM_005633.4(SOS1):c.1626A>G (p.Ile542Met) rs746798986 0.00001
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro) rs981234810 0.00001
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023 0.00001
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr) rs758699499 0.00001
NM_005633.4(SOS1):c.1848T>C (p.His616=) rs1344852617 0.00001
NM_005633.4(SOS1):c.1863C>T (p.Pro621=) rs759125551 0.00001
NM_005633.4(SOS1):c.1931T>C (p.Ile644Thr) rs769891933 0.00001
NM_005633.4(SOS1):c.1956G>A (p.Glu652=) rs1365773428 0.00001
NM_005633.4(SOS1):c.1995T>C (p.Asn665=) rs779262456 0.00001
NM_005633.4(SOS1):c.199G>A (p.Ala67Thr) rs730881053 0.00001
NM_005633.4(SOS1):c.2089G>T (p.Val697Leu) rs966388444 0.00001
NM_005633.4(SOS1):c.2097C>A (p.His699Gln) rs765074047 0.00001
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala) rs367634525 0.00001
NM_005633.4(SOS1):c.2227G>C (p.Ala743Pro) rs759584440 0.00001
NM_005633.4(SOS1):c.2454T>C (p.Ser818=) rs748802612 0.00001
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser) rs397517158 0.00001
NM_005633.4(SOS1):c.2567T>C (p.Ile856Thr) rs778865680 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.2606A>G (p.Asn869Ser) rs730881030 0.00001
NM_005633.4(SOS1):c.2684G>A (p.Ser895Asn) rs1164976822 0.00001
NM_005633.4(SOS1):c.2739G>A (p.Lys913=) rs997339872 0.00001
NM_005633.4(SOS1):c.273A>G (p.Gln91=) rs914110575 0.00001
NM_005633.4(SOS1):c.281T>C (p.Ile94Thr) rs397517161 0.00001
NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln) rs1553351453 0.00001
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr) rs1321926273 0.00001
NM_005633.4(SOS1):c.3033C>T (p.Asn1011=) rs1196614292 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.3093T>C (p.Tyr1031=) rs766864647 0.00001
NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr) rs373948887 0.00001
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=) rs145357714 0.00001
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile) rs1342428273 0.00001
NM_005633.4(SOS1):c.3438A>G (p.Glu1146=) rs1226908698 0.00001
NM_005633.4(SOS1):c.3504A>G (p.Pro1168=) rs748617507 0.00001
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro) rs730881035 0.00001
NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val) rs374497013 0.00001
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130 0.00001
NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly) rs1293079271 0.00001
NM_005633.4(SOS1):c.3732T>C (p.His1244=) rs1391583247 0.00001
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.376G>A (p.Val126Ile) rs755770649 0.00001
NM_005633.4(SOS1):c.3795T>G (p.Ser1265=) rs538954728 0.00001
NM_005633.4(SOS1):c.3813G>A (p.Arg1271=) rs863224405 0.00001
NM_005633.4(SOS1):c.3832T>C (p.Leu1278=) rs750354913 0.00001
NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr) rs750296853 0.00001
NM_005633.4(SOS1):c.3987T>C (p.Asn1329=) rs936986823 0.00001
NM_005633.4(SOS1):c.429G>A (p.Lys143=) rs773264070 0.00001
NM_005633.4(SOS1):c.464A>G (p.Tyr155Cys) rs1188280924 0.00001
NM_005633.4(SOS1):c.543A>G (p.Glu181=) rs201068374 0.00001
NM_005633.4(SOS1):c.552T>C (p.Asn184=) rs727503438 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu) rs889231089 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_005633.4(SOS1):c.771A>G (p.Val257=) rs1671007109 0.00001
NM_005633.4(SOS1):c.783C>A (p.Gly261=) rs951992465 0.00001
NM_005633.4(SOS1):c.795T>C (p.Asp265=) rs777745085 0.00001
NM_005633.4(SOS1):c.847T>C (p.Phe283Leu) rs1222945881 0.00001
NM_005633.4(SOS1):c.864+3A>G rs201119821 0.00001
NM_005633.4(SOS1):c.890C>T (p.Ser297Leu) rs779162761 0.00001
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys) rs756679265 0.00001
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.*1606del rs34248802
NM_005633.4(SOS1):c.*2244_*2245dup rs3832123
NM_005633.4(SOS1):c.1035C>G (p.Ala345=) rs557313301
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1203-8T>C rs1669853901
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.1291G>A (p.Gly431Ser) rs1223347034
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.4(SOS1):c.1333A>G (p.Ile445Val) rs2124537533
NM_005633.4(SOS1):c.1352C>G (p.Thr451Arg) rs730880218
NM_005633.4(SOS1):c.1357G>A (p.Val453Ile) rs1669848256
NM_005633.4(SOS1):c.1370A>G (p.His457Arg) rs1060503524
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp) rs199778219
NM_005633.4(SOS1):c.1690G>A (p.Glu564Lys) rs1386900583
NM_005633.4(SOS1):c.1707G>A (p.Leu569=) rs1479407572
NM_005633.4(SOS1):c.1935A>G (p.Ile645Met) rs2124520154
NM_005633.4(SOS1):c.2063+44T>C rs111576630
NM_005633.4(SOS1):c.2064-20A>T rs756707478
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.213+14_213+16del rs768872084
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.21C>T (p.Pro7=) rs727504845
NM_005633.4(SOS1):c.2237A>G (p.Asn746Ser) rs975491573
NM_005633.4(SOS1):c.2253T>G (p.Asn751Lys) rs1553354376
NM_005633.4(SOS1):c.2356C>T (p.Arg786Ter) rs2124514851
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.2446A>G (p.Ile816Val) rs2124511484
NM_005633.4(SOS1):c.2489A>T (p.Asn830Ile) rs397517158
NM_005633.4(SOS1):c.2491C>G (p.Leu831Val) rs2124511437
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.2517T>C (p.Ile839=) rs776366413
NM_005633.4(SOS1):c.2661C>A (p.Asp887Glu) rs2124503229
NM_005633.4(SOS1):c.2674-22C>G rs61601281
NM_005633.4(SOS1):c.2674-9del rs532594344
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_005633.4(SOS1):c.2775A>T (p.Pro925=) rs397517160
NM_005633.4(SOS1):c.2792-50dup rs869215095
NM_005633.4(SOS1):c.2836G>C (p.Glu946Gln) rs1558460847
NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg) rs2124479522
NM_005633.4(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_005633.4(SOS1):c.3195T>C (p.Tyr1065=) rs1280224224
NM_005633.4(SOS1):c.3257C>T (p.Pro1086Leu) rs730881028
NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp) rs572955351
NM_005633.4(SOS1):c.3391+3_3391+6del rs756201866
NM_005633.4(SOS1):c.3451C>T (p.Pro1151Ser) rs2124458641
NM_005633.4(SOS1):c.3531C>A (p.Asp1177Glu) rs730881049
NM_005633.4(SOS1):c.3534T>A (p.Ser1178Arg) rs1572796568
NM_005633.4(SOS1):c.3693A>G (p.Leu1231=) rs772625418
NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser) rs371408734
NM_005633.4(SOS1):c.3748C>T (p.Pro1250Ser) rs1668548624
NM_005633.4(SOS1):c.3778C>G (p.Pro1260Ala) rs779336305
NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup) rs1175436231
NM_005633.4(SOS1):c.3857C>G (p.Ser1286Cys) rs374341202
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly) rs2148243276
NM_005633.4(SOS1):c.3960C>G (p.His1320Gln) rs1553349464
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg) rs727503434
NM_005633.4(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.4(SOS1):c.511-9_511-6del rs986512473
NM_005633.4(SOS1):c.548T>C (p.Ile183Thr) rs772569423
NM_005633.4(SOS1):c.560C>A (p.Ser187Tyr) rs730881038
NM_005633.4(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr) rs397517176
NM_005633.4(SOS1):c.706T>C (p.Leu236=) rs1418372765
NM_005633.4(SOS1):c.720+1G>A rs2465346587
NM_005633.4(SOS1):c.720T>C (p.Asn240=) rs779699814
NM_005633.4(SOS1):c.754A>G (p.Ile252Val) rs1158811958
NM_005633.4(SOS1):c.788T>C (p.Ile263Thr) rs1310500908
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.4(SOS1):c.829C>A (p.Pro277Thr) rs1057517871
NM_005633.4(SOS1):c.87+6G>T rs777383378
NM_005633.4(SOS1):c.891G>A (p.Ser297=) rs1572841459
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005633.4(SOS1):c.961G>A (p.Ala321Thr) rs1558480612
NM_005633.4(SOS1):c.976-5dup rs771586560

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.