ClinVar Miner

List of variants in gene SOS1 studied for RASopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP
LRG_754t1:c.1-36_1-34del
LRG_754t1:c.213+15C>G
NC_000002.12:g.(?_39067608)_(39120442_?)dup
NM_005633.3(SOS1):c.*1094_*1097delTTTG rs886056016
NM_005633.3(SOS1):c.*1224A>G rs886056015
NM_005633.3(SOS1):c.*1303C>A rs115153488
NM_005633.3(SOS1):c.*1309A>G rs145273962
NM_005633.3(SOS1):c.*1333_*1336dupAAGT rs35969619
NM_005633.3(SOS1):c.*1385A>G rs868000333
NM_005633.3(SOS1):c.*1516G>A rs550823381
NM_005633.3(SOS1):c.*1552T>A rs139679723
NM_005633.3(SOS1):c.*1589T>G rs886056014
NM_005633.3(SOS1):c.*1606delT rs34248802
NM_005633.3(SOS1):c.*1678C>A rs886056013
NM_005633.3(SOS1):c.*1684G>C rs886056012
NM_005633.3(SOS1):c.*1694delT rs767903412
NM_005633.3(SOS1):c.*1731A>G rs79270739
NM_005633.3(SOS1):c.*1844A>G rs10166395
NM_005633.3(SOS1):c.*2048_*2050dupAAC rs761591990
NM_005633.3(SOS1):c.*2063_*2066dupACAG rs886056011
NM_005633.3(SOS1):c.*2208dupC rs886056010
NM_005633.3(SOS1):c.*2218T>A rs886056009
NM_005633.3(SOS1):c.*223C>T rs886056022
NM_005633.3(SOS1):c.*2244_*2245dupTA rs3832123
NM_005633.3(SOS1):c.*2439delA rs377250198
NM_005633.3(SOS1):c.*2497G>A rs886056008
NM_005633.3(SOS1):c.*2503_*2506dupAAAT rs886056007
NM_005633.3(SOS1):c.*2567T>A rs6704656
NM_005633.3(SOS1):c.*2983C>T rs190454003
NM_005633.3(SOS1):c.*298C>G rs886056021
NM_005633.3(SOS1):c.*3189_*3192delTGTT rs572584074
NM_005633.3(SOS1):c.*328A>G rs1059310
NM_005633.3(SOS1):c.*3416_*3417delTC rs200892895
NM_005633.3(SOS1):c.*3451A>T rs78411167
NM_005633.3(SOS1):c.*3463A>G rs886056006
NM_005633.3(SOS1):c.*3539T>C rs1037495
NM_005633.3(SOS1):c.*3566_*3568delGTT rs886056005
NM_005633.3(SOS1):c.*3592C>T rs550315455
NM_005633.3(SOS1):c.*3724T>C rs11124658
NM_005633.3(SOS1):c.*3725T>C rs72799430
NM_005633.3(SOS1):c.*3727G>C rs886056004
NM_005633.3(SOS1):c.*3918T>C rs1043793
NM_005633.3(SOS1):c.*399_*400insCA rs144104838
NM_005633.3(SOS1):c.*4023T>C rs1043800
NM_005633.3(SOS1):c.*4110C>A rs886056003
NM_005633.3(SOS1):c.*4221C>T rs565544523
NM_005633.3(SOS1):c.*4265A>G rs377303107
NM_005633.3(SOS1):c.*4C>T (p.Gln2Ter) rs188849286
NM_005633.3(SOS1):c.*534C>T rs773935049
NM_005633.3(SOS1):c.*544C>T rs886056020
NM_005633.3(SOS1):c.*642T>C rs886056019
NM_005633.3(SOS1):c.*696G>A rs886056018
NM_005633.3(SOS1):c.*758A>T rs182650589
NM_005633.3(SOS1):c.*766delA rs533720751
NM_005633.3(SOS1):c.*805C>A rs1059313
NM_005633.3(SOS1):c.*855G>A rs886056017
NM_005633.3(SOS1):c.*909G>A rs147219108
NM_005633.3(SOS1):c.1007A>G (p.Gln336Arg) rs765028553
NM_005633.3(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1097A>T (p.Asp366Val)
NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) rs150565592
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.115G>A (p.Glu39Lys)
NM_005633.3(SOS1):c.1191A>G (p.Lys397=) rs770175415
NM_005633.3(SOS1):c.1202+5A>G rs1021449471
NM_005633.3(SOS1):c.1203-20T>C rs112906251
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.3(SOS1):c.1300_1301delGGinsAA (p.Gly434Lys) rs730881048
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.3(SOS1):c.1352C>G (p.Thr451Arg) rs730880218
NM_005633.3(SOS1):c.1370A>G (p.His457Arg) rs1060503524
NM_005633.3(SOS1):c.141T>C (p.Tyr47=) rs201649682
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1564A>C (p.Asn522His) rs761094509
NM_005633.3(SOS1):c.1574T>C (p.Ile525Thr) rs146722878
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.3(SOS1):c.1647A>G (p.Thr549=) rs139683425
NM_005633.3(SOS1):c.1648C>T (p.Leu550=) rs1233000238
NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.1770G>A (p.Glu590=) rs553331572
NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser) rs757213444
NM_005633.3(SOS1):c.1798A>C (p.Ile600Leu)
NM_005633.3(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.3(SOS1):c.1850T>C (p.Met617Thr) rs775105134
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.1931T>C (p.Ile644Thr) rs769891933
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.1964C>T (p.Pro655Leu) rs56219475
NM_005633.3(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe) rs200712930
NM_005633.3(SOS1):c.2012G>C (p.Ser671Thr) rs1060503525
NM_005633.3(SOS1):c.2089G>T (p.Val697Leu)
NM_005633.3(SOS1):c.2097C>A (p.His699Gln)
NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.3(SOS1):c.2121T>C (p.Asp707=) rs571408451
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2138G>A (p.Arg713Gln) rs483352826
NM_005633.3(SOS1):c.214-10A>G rs371447614
NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) rs200794965
NM_005633.3(SOS1):c.2165G>A (p.Arg722Lys) rs142666652
NM_005633.3(SOS1):c.2167+1G>A
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.3(SOS1):c.21C>G (p.Pro7=) rs727504845
NM_005633.3(SOS1):c.2238T>C (p.Asn746=) rs75877625
NM_005633.3(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.3(SOS1):c.2312T>C (p.Ile771Thr)
NM_005633.3(SOS1):c.2316G>C (p.Glu772Asp)
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.244A>G (p.Ile82Val) rs397517157
NM_005633.3(SOS1):c.2489A>G (p.Asn830Ser) rs397517158
NM_005633.3(SOS1):c.2511-13_2511-9delTTTTT rs727503436
NM_005633.3(SOS1):c.2511-9delT rs727503436
NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.3(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.3(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2674-9dup rs532594344
NM_005633.3(SOS1):c.273A>G (p.Gln91=) rs914110575
NM_005633.3(SOS1):c.2760G>A (p.Arg920=) rs149092581
NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.3(SOS1):c.2791+53C>T rs7577088
NM_005633.3(SOS1):c.2791+7_2791+10delATTT rs760707217
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.3(SOS1):c.283G>A (p.Glu95Lys)
NM_005633.3(SOS1):c.2944C>A (p.Arg982=) rs1553351455
NM_005633.3(SOS1):c.294G>A (p.Lys98=) rs748478952
NM_005633.3(SOS1):c.2964+32T>G rs727505384
NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) rs202043599
NM_005633.3(SOS1):c.2988G>A (p.Pro996=) rs35462677
NM_005633.3(SOS1):c.2997T>C (p.Asn999=) rs145364368
NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_005633.3(SOS1):c.3060C>T (p.Asn1020=) rs142431345
NM_005633.3(SOS1):c.3068C>G (p.Pro1023Arg)
NM_005633.3(SOS1):c.3072C>T (p.Leu1024=) rs558386297
NM_005633.3(SOS1):c.3081+26G>A rs186106971
NM_005633.3(SOS1):c.3081+32A>G rs6723430
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.3260dup (p.Leu1087Phefs)
NM_005633.3(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.3(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379
NM_005633.3(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844
NM_005633.3(SOS1):c.3330G>C (p.Ser1110=) rs146383828
NM_005633.3(SOS1):c.3347-1G>A rs141565234
NM_005633.3(SOS1):c.3347-20T>G rs727505382
NM_005633.3(SOS1):c.3347-3C>T rs779326746
NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys)
NM_005633.3(SOS1):c.3412A>G (p.Ile1138Val) rs56248239
NM_005633.3(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588
NM_005633.3(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.3(SOS1):c.3440T>C (p.Val1147Ala)
NM_005633.3(SOS1):c.345+12_345+13dupCT rs397517167
NM_005633.3(SOS1):c.350T>G (p.Val117Gly) rs201085754
NM_005633.3(SOS1):c.3552T>G (p.Pro1184=) rs200485215
NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736
NM_005633.3(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.3(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.3(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130
NM_005633.3(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026
NM_005633.3(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211
NM_005633.3(SOS1):c.3778C>G (p.Pro1260Ala) rs779336305
NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.3(SOS1):c.3813G>A (p.Arg1271=) rs863224405
NM_005633.3(SOS1):c.3836C>T (p.Thr1279Ile)
NM_005633.3(SOS1):c.3905T>C (p.Ile1302Thr) rs750296853
NM_005633.3(SOS1):c.3946C>G (p.His1316Asp) rs371024396
NM_005633.3(SOS1):c.396A>T (p.Ala132=) rs727505385
NM_005633.3(SOS1):c.39A>G (p.Glu13=) rs763337946
NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.3(SOS1):c.511-9_511-6delACTG rs986512473
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.3(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.3(SOS1):c.543A>G (p.Glu181=) rs201068374
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.558_562delATCTT (p.Leu186Phefs) rs1553362269
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.582C>T (p.Ser194=) rs746685895
NM_005633.3(SOS1):c.587C>T (p.Ser196Leu) rs199898869
NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.3(SOS1):c.643T>C (p.Tyr215His) rs730881039
NM_005633.3(SOS1):c.675T>G (p.Val225=) rs371482290
NM_005633.3(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005633.3(SOS1):c.720+25C>G rs997344
NM_005633.3(SOS1):c.720+9C>T rs370687707
NM_005633.3(SOS1):c.73C>T (p.Pro25Ser) rs139592595
NM_005633.3(SOS1):c.746T>C (p.Ile249Thr) rs1324979194
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.3(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.3(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.3(SOS1):c.865-4T>C rs750788947
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005633.3(SOS1):c.929G>A (p.Arg310His) rs143481916
NM_005633.3(SOS1):c.979A>G (p.Ile327Val) rs758546951
NM_005633.3(SOS1):c.985G>A (p.Glu329Lys) rs756679265

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