ClinVar Miner

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

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.*3416_*3417del rs200892895 0.00226
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
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.244A>G (p.Ile82Val) rs397517157 0.00009
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941 0.00009
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535 0.00007
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=) rs772823827 0.00005
NM_005633.4(SOS1):c.*2503_*2506dup rs886056007 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201 0.00001
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005633.4(SOS1):c.*1090TTTG[1] rs886056016
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.*298C>G rs886056021
NM_005633.4(SOS1):c.*3189_*3192del rs572584074
NM_005633.4(SOS1):c.*3566_*3568del rs886056005
NM_005633.4(SOS1):c.*696G>A rs886056018
NM_005633.4(SOS1):c.*766del rs533720751
NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)
NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
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.1528T>C (p.Tyr510His) rs201404055
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)
NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)

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