ClinVar Miner

List of variants in gene SOS1 reported as uncertain significance for Noonan syndrome 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.*3451A>T rs78411167 0.00429
NM_005633.4(SOS1):c.*758A>T rs182650589 0.00372
NM_005633.4(SOS1):c.*1309A>G rs145273962 0.00319
NM_005633.4(SOS1):c.*1303C>A rs115153488 0.00308
NM_005633.4(SOS1):c.*4023T>C rs1043800 0.00233
NM_005633.4(SOS1):c.*534C>T rs773935049 0.00089
NM_005633.4(SOS1):c.*559C>T rs572880679 0.00059
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_005633.4(SOS1):c.*3989G>C rs751112874 0.00052
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_005633.4(SOS1):c.*4014T>C rs186738827 0.00040
NM_005633.4(SOS1):c.*3725T>C rs72799430 0.00038
NM_005633.4(SOS1):c.*1762A>C rs374339697 0.00026
NM_005633.4(SOS1):c.*3252A>C rs769883659 0.00020
NM_005633.4(SOS1):c.*185A>G rs556367844 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_005633.4(SOS1):c.*1684G>C rs886056012 0.00014
NM_005633.4(SOS1):c.*664C>T rs771800455 0.00011
NM_005633.4(SOS1):c.*223C>T rs886056022 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005633.4(SOS1):c.*1641A>G rs760193823 0.00009
NM_005633.4(SOS1):c.*1477G>A rs1029291502 0.00008
NM_005633.4(SOS1):c.*421A>G rs973373222 0.00008
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_005633.4(SOS1):c.929G>A (p.Arg310His) rs143481916 0.00006
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr) rs557328600 0.00005
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu) rs199898869 0.00005
NM_005633.4(SOS1):c.864+12A>C rs374379005 0.00005
NM_005633.4(SOS1):c.*2056A>C rs532255169 0.00004
NM_005633.4(SOS1):c.*2662G>A rs141841546 0.00004
NM_005633.4(SOS1):c.*873C>T rs961299565 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00004
NM_005633.4(SOS1):c.1859-3T>C rs199727062 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.382G>A (p.Val128Ile) rs752402979 0.00004
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00004
NM_005633.4(SOS1):c.*1270T>C rs1019150969 0.00003
NM_005633.4(SOS1):c.*3727G>C rs886056004 0.00003
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.1988T>C (p.Ile663Thr) rs1048869073 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.599C>G (p.Thr200Ser) rs143007609 0.00003
NM_005633.4(SOS1):c.890C>T (p.Ser297Leu) rs779162761 0.00003
NM_005633.4(SOS1):c.*1385A>G rs868000333 0.00002
NM_005633.4(SOS1):c.*1391C>T rs1033636331 0.00002
NM_005633.4(SOS1):c.*230T>C rs1264452853 0.00002
NM_005633.4(SOS1):c.*4076C>T rs1040937396 0.00002
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 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.2567T>C (p.Ile856Thr) rs778865680 0.00002
NM_005633.4(SOS1):c.3347-3C>T rs779326746 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.899G>A (p.Arg300Gln) rs754374236 0.00002
NM_005633.4(SOS1):c.979A>G (p.Ile327Val) rs758546951 0.00002
NM_005633.4(SOS1):c.*2218T>A rs886056009 0.00001
NM_005633.4(SOS1):c.*2497G>A rs886056008 0.00001
NM_005633.4(SOS1):c.*3041A>C rs1167439482 0.00001
NM_005633.4(SOS1):c.*4265A>G rs377303107 0.00001
NM_005633.4(SOS1):c.*544C>T rs886056020 0.00001
NM_005633.4(SOS1):c.*642T>C rs886056019 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.1564A>C (p.Asn522His) rs761094509 0.00001
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr) rs146722878 0.00001
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser) rs1363908468 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.1635G>A (p.Gln545=) rs1240207005 0.00001
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys) rs1393222137 0.00001
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr) rs758699499 0.00001
NM_005633.4(SOS1):c.1931T>C (p.Ile644Thr) rs769891933 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.2121T>C (p.Asp707=) rs571408451 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.2489A>G (p.Asn830Ser) rs397517158 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.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.3257C>T (p.Pro1086Leu) rs730881028 0.00001
NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr) rs373948887 0.00001
NM_005633.4(SOS1):c.3352G>T (p.Asp1118Tyr) rs1276062555 0.00001
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile) rs1342428273 0.00001
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro) rs730881035 0.00001
NM_005633.4(SOS1):c.3531C>A (p.Asp1177Glu) rs730881049 0.00001
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=) rs587781173 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.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.376G>A (p.Val126Ile) rs755770649 0.00001
NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr) rs750296853 0.00001
NM_005633.4(SOS1):c.464A>G (p.Tyr155Cys) rs1188280924 0.00001
NM_005633.4(SOS1):c.560C>A (p.Ser187Tyr) rs730881038 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00001
NM_005633.4(SOS1):c.675T>G (p.Val225=) rs371482290 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 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.865-4T>C rs750788947 0.00001
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys) rs756679265 0.00001
NM_005633.4(SOS1):c.*1049G>T rs992013519
NM_005633.4(SOS1):c.*110C>A rs1668534690
NM_005633.4(SOS1):c.*1224A>G rs886056015
NM_005633.4(SOS1):c.*1396G>T rs974302565
NM_005633.4(SOS1):c.*1412A>G rs1668490693
NM_005633.4(SOS1):c.*1535G>A rs1668487434
NM_005633.4(SOS1):c.*1589T>G rs886056014
NM_005633.4(SOS1):c.*1678C>A rs886056013
NM_005633.4(SOS1):c.*1998G>T rs1285805260
NM_005633.4(SOS1):c.*218T>G rs1258255790
NM_005633.4(SOS1):c.*21A>G rs532419541
NM_005633.4(SOS1):c.*2246A>T rs1668462557
NM_005633.4(SOS1):c.*2257C>G rs1020523755
NM_005633.4(SOS1):c.*2512C>A rs1239076061
NM_005633.4(SOS1):c.*2893C>A rs1668445130
NM_005633.4(SOS1):c.*3149C>T rs541644361
NM_005633.4(SOS1):c.*3158T>C rs913024422
NM_005633.4(SOS1):c.*3230T>C rs1572793043
NM_005633.4(SOS1):c.*3291C>T rs748136708
NM_005633.4(SOS1):c.*3326T>C rs1668433787
NM_005633.4(SOS1):c.*3463A>G rs886056006
NM_005633.4(SOS1):c.*3750T>C rs1034733063
NM_005633.4(SOS1):c.*3811T>C rs1297949357
NM_005633.4(SOS1):c.*4077G>T rs763838346
NM_005633.4(SOS1):c.*408C>T rs1572795423
NM_005633.4(SOS1):c.*4110C>A rs886056003
NM_005633.4(SOS1):c.*483A>C rs1668521466
NM_005633.4(SOS1):c.*855G>A rs886056017
NM_005633.4(SOS1):c.*909G>A rs147219108
NM_005633.4(SOS1):c.1019C>A (p.Pro340His) rs1367541617
NM_005633.4(SOS1):c.1074+1966C>G rs2124558711
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
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.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.137A>T (p.Gln46Leu) rs1190714377
NM_005633.4(SOS1):c.1393_1394delinsTT (p.Asp465Phe)
NM_005633.4(SOS1):c.157T>G (p.Leu53Val)
NM_005633.4(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.4(SOS1):c.1660C>A (p.Leu554Ile) rs757341897
NM_005633.4(SOS1):c.1674G>A (p.Met558Ile)
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.1698G>C (p.Gln566His)
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.4(SOS1):c.1935A>G (p.Ile645Met) rs2124520154
NM_005633.4(SOS1):c.196A>G (p.Ser66Gly)
NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys) rs2124517554
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.225A>G (p.Gln75=) rs560037748
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_005633.4(SOS1):c.2356C>T (p.Arg786Ter) rs2124514851
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.2661C>A (p.Asp887Glu) rs2124503229
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.2674-7C>T rs1015610936
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val) rs780420674
NM_005633.4(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
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.2973T>G (p.Phe991Leu)
NM_005633.4(SOS1):c.3068C>G (p.Pro1023Arg) rs1572806229
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys) rs1668861106
NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr) rs1668850707
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.3534T>A (p.Ser1178Arg) rs1572796568
NM_005633.4(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser) rs371408734
NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly) rs1293079271
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.3793T>G (p.Ser1265Ala) rs886056023
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.3960C>G (p.His1320Gln) rs1553349464
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg) rs727503434
NM_005633.4(SOS1):c.427A>G (p.Lys143Glu) rs1671228827
NM_005633.4(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.4(SOS1):c.541G>A (p.Glu181Lys) rs1671148501
NM_005633.4(SOS1):c.543A>C (p.Glu181Asp) rs201068374
NM_005633.4(SOS1):c.548T>C (p.Ile183Thr) rs772569423
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr) rs397517176
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu) rs889231089
NM_005633.4(SOS1):c.720+1G>A
NM_005633.4(SOS1):c.720T>C (p.Asn240=) rs779699814
NM_005633.4(SOS1):c.730A>G (p.Asn244Asp) rs1671008499
NM_005633.4(SOS1):c.743G>T (p.Arg248Leu) rs775052125
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.800T>C (p.Val267Ala)
NM_005633.4(SOS1):c.829C>A (p.Pro277Thr) rs1057517871
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg) rs1671004485
NM_005633.4(SOS1):c.848T>C (p.Phe283Ser) rs1572855029
NM_005633.4(SOS1):c.961G>A (p.Ala321Thr) rs1558480612

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