ClinVar Miner

List of variants studied for Noonan syndrome 9 by Genome-Nilou Lab

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ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.213+37C>G rs1075537 0.88797
NM_006939.4(SOS2):c.2667+43G>A rs2064667 0.87379
NM_006939.4(SOS2):c.1197-32G>A rs4900992 0.87236
NM_006939.4(SOS2):c.2057+34T>C rs3736761 0.83210
NM_006939.4(SOS2):c.2057+38C>T rs3736760 0.83188
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113 0.00071
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193 0.00045
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_006939.4(SOS2):c.969+20T>G rs559272877 0.00041
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880 0.00038
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00034
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728 0.00029
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190 0.00027
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358 0.00020
NM_006939.4(SOS2):c.2010A>G (p.Ala670=) rs147081547 0.00019
NM_006939.4(SOS2):c.3076-17A>T rs200184350 0.00018
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00016
NM_006939.4(SOS2):c.2057+19T>A rs544924513 0.00015
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661 0.00013
NM_006939.4(SOS2):c.2328A>G (p.Thr776=) rs116162949 0.00013
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515 0.00010
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_006939.4(SOS2):c.3729C>T (p.His1243=) rs761917783 0.00008
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064 0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=) rs369410641 0.00006
NM_006939.4(SOS2):c.2959-16A>G rs147830734 0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006939.4(SOS2):c.244A>G (p.Ile82Val) rs545263131 0.00005
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651 0.00004
NM_006939.4(SOS2):c.1584T>C (p.Ser528=) rs374642561 0.00004
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser) rs1391029692 0.00004
NM_006939.4(SOS2):c.2220A>C (p.Gln740His) rs576277421 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 0.00004
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067 0.00004
NM_006939.4(SOS2):c.3335G>A (p.Cys1112Tyr) rs756103351 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg) rs569343105 0.00004
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg) rs759124324 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln) rs538341032 0.00004
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=) rs753698896 0.00003
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys) rs375244948 0.00003
NM_006939.4(SOS2):c.1356T>C (p.Gly452=) rs746956553 0.00003
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171 0.00003
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr) rs747274422 0.00003
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr) rs764483791 0.00003
NM_006939.4(SOS2):c.3606T>C (p.Ser1202=) rs539432390 0.00003
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=) rs527576404 0.00003
NM_006939.4(SOS2):c.540C>T (p.Asp180=) rs189555369 0.00003
NM_006939.4(SOS2):c.63A>G (p.Gly21=) rs761849560 0.00003
NM_006939.4(SOS2):c.1156G>C (p.Asp386His) rs776909576 0.00002
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser) rs201821194 0.00002
NM_006939.4(SOS2):c.1392C>T (p.Gly464=) rs188355135 0.00002
NM_006939.4(SOS2):c.1669T>C (p.Leu557=) rs370600053 0.00002
NM_006939.4(SOS2):c.2049A>G (p.Val683=) rs748361433 0.00002
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997 0.00002
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_006939.4(SOS2):c.364G>A (p.Val122Met) rs1208838203 0.00002
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu) rs752525400 0.00002
NM_006939.4(SOS2):c.1059G>A (p.Glu353=) rs1231657921 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1273A>G (p.Lys425Glu) rs372203654 0.00001
NM_006939.4(SOS2):c.1326C>T (p.Phe442=) rs150365706 0.00001
NM_006939.4(SOS2):c.1446T>C (p.Ser482=) rs1468565433 0.00001
NM_006939.4(SOS2):c.1458C>T (p.Tyr486=) rs199651967 0.00001
NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp) rs1884935096 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=) rs780152724 0.00001
NM_006939.4(SOS2):c.189G>C (p.Gln63His) rs771269309 0.00001
NM_006939.4(SOS2):c.2184A>C (p.Val728=) rs776046903 0.00001
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp) rs764992819 0.00001
NM_006939.4(SOS2):c.2253C>T (p.Thr751=) rs1050544302 0.00001
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958 0.00001
NM_006939.4(SOS2):c.2471G>A (p.Arg824His) rs1433825913 0.00001
NM_006939.4(SOS2):c.2643A>G (p.Val881=) rs1329137002 0.00001
NM_006939.4(SOS2):c.2916T>C (p.Tyr972=) rs979918396 0.00001
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser) rs779413196 0.00001
NM_006939.4(SOS2):c.3279A>C (p.Pro1093=) rs780697283 0.00001
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val) rs376113934 0.00001
NM_006939.4(SOS2):c.3531G>A (p.Pro1177=) rs1248324702 0.00001
NM_006939.4(SOS2):c.3573T>G (p.Val1191=) rs756940411 0.00001
NM_006939.4(SOS2):c.360C>T (p.Tyr120=) rs762044455 0.00001
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00001
NM_006939.4(SOS2):c.374A>T (p.His125Leu) rs777300218 0.00001
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=) rs747521589 0.00001
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser) rs780772018 0.00001
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His) rs200104745 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=) rs751408063 0.00001
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309 0.00001
NM_006939.4(SOS2):c.3984A>G (p.Ala1328=) rs776266602 0.00001
NM_006939.4(SOS2):c.804T>C (p.Thr268=) rs750437794 0.00001
NM_006939.4(SOS2):c.813C>T (p.Ser271=) rs371598827 0.00001
NM_006939.4(SOS2):c.1024C>T (p.Leu342=) rs1033098930
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly) rs777771444
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys) rs1884941722
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.1341A>G (p.Pro447=) rs761540894
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val) rs886268693
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.1767C>T (p.Asn589=) rs1427742827
NM_006939.4(SOS2):c.1815G>T (p.Val605=) rs966907268
NM_006939.4(SOS2):c.181A>G (p.Met61Val) rs774761716
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn) rs769787486
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn) rs186110427
NM_006939.4(SOS2):c.2397G>A (p.Pro799=) rs770022419
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.2939G>A (p.Arg980Gln) rs2139550610
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg) rs780598157
NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr) rs2139528591
NM_006939.4(SOS2):c.3302G>A (p.Ser1101Asn) rs1419463844
NM_006939.4(SOS2):c.3337+4A>G rs924531063
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=) rs147513220
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.3762G>A (p.Thr1254=) rs769536087
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala) rs1344396759
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.3968C>T (p.Pro1323Leu) rs886041929
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.399A>G (p.Val133=) rs144584870
NM_006939.4(SOS2):c.521A>G (p.Asp174Gly) rs2139734704
NM_006939.4(SOS2):c.545G>T (p.Gly182Val) rs149487643
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_006939.4(SOS2):c.846A>G (p.Glu282=) rs776312082
NM_006939.4(SOS2):c.944G>A (p.Arg315Lys) rs2139702139
NM_006939.4(SOS2):c.975T>G (p.Ile325Met) rs2139679163

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