ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome 4 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.*3451A>T rs78411167 0.00411
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 0.00300
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 0.00017
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00015
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00015
NM_005633.4(SOS1):c.*1684G>C rs886056012 0.00014
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00012
NM_005633.4(SOS1):c.*664C>T rs771800455 0.00010
NM_005633.4(SOS1):c.*1641A>G rs760193823 0.00009
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 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.929G>A (p.Arg310His) rs143481916 0.00007
NM_005633.4(SOS1):c.225A>G (p.Gln75=) rs560037748 0.00006
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.*1270T>C rs1019150969 0.00003
NM_005633.4(SOS1):c.*223C>T rs886056022 0.00003
NM_005633.4(SOS1):c.*3727G>C rs886056004 0.00003
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00003
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met) rs776814547 0.00003
NM_005633.4(SOS1):c.*1385A>G rs868000333 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.*408C>T rs1572795423 0.00002
NM_005633.4(SOS1):c.3347-3C>T rs779326746 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00002
NM_005633.4(SOS1):c.*1391C>T rs1033636331 0.00001
NM_005633.4(SOS1):c.*21A>G rs532419541 0.00001
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.*909G>A rs147219108 0.00001
NM_005633.4(SOS1):c.1635G>A (p.Gln545=) rs1240207005 0.00001
NM_005633.4(SOS1):c.2121T>C (p.Asp707=) rs571408451 0.00001
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=) rs587781173 0.00001
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu) rs889231089 0.00001
NM_005633.4(SOS1):c.675T>G (p.Val225=) rs371482290 0.00001
NM_005633.4(SOS1):c.865-4T>C rs750788947 0.00001
NM_005633.4(SOS1):c.899G>A (p.Arg300Gln) rs754374236 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.*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.*4110C>A rs886056003
NM_005633.4(SOS1):c.*483A>C rs1668521466
NM_005633.4(SOS1):c.*855G>A rs886056017
NM_005633.4(SOS1):c.1019C>A (p.Pro340His) rs1367541617
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.2674-7C>T rs1015610936
NM_005633.4(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.4(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.4(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.4(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.4(SOS1):c.730A>G (p.Asn244Asp) rs1671008499

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