ClinVar Miner

List of variants in gene SOS1 studied for Noonan syndrome

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Gene type:
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Total variants: 99
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HGVS dbSNP
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.*1090TTTG[1] rs886056016
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.*1606del rs34248802
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*2048_*2050dup rs761591990
NM_005633.4(SOS1):c.*2063_*2066dup rs886056011
NM_005633.4(SOS1):c.*2208dup rs886056010
NM_005633.4(SOS1):c.*2244_*2245dup rs3832123
NM_005633.4(SOS1):c.*2439del rs377250198
NM_005633.4(SOS1):c.*2503_*2506dup rs886056007
NM_005633.4(SOS1):c.*298C>G rs886056021
NM_005633.4(SOS1):c.*3189_*3192del rs572584074
NM_005633.4(SOS1):c.*3416_*3417del rs200892895
NM_005633.4(SOS1):c.*3566_*3568del rs886056005
NM_005633.4(SOS1):c.*399_*400insCA rs144104838
NM_005633.4(SOS1):c.*696G>A rs886056018
NM_005633.4(SOS1):c.*766del rs533720751
NM_005633.4(SOS1):c.1074+5G>C rs145155424
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)
NM_005633.4(SOS1):c.1203-20T>C rs112906251
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
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.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.1391T>C (p.Phe464Ser)
NM_005633.4(SOS1):c.1403T>C (p.Met468Thr)
NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)
NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)
NM_005633.4(SOS1):c.1528T>C (p.Tyr510His) rs201404055
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
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.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1655G>C rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157
NM_005633.4(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.2791+53C>T rs7577088
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.4(SOS1):c.3081+26G>A rs186106971
NM_005633.4(SOS1):c.3081+32A>G rs6723430
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379
NM_005633.4(SOS1):c.3347-20T>G rs727505382
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.3391+7A>G rs201982464
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241
NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005633.4(SOS1):c.720+25C>G rs997344
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)
NM_005633.4(SOS1):c.836T>C (p.Val279Ala)
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180

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