ClinVar Miner

List of variants in gene SOS1 studied for Noonan syndrome and Noonan-related syndrome

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
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.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_005633.4(SOS1):c.1953A>G (p.Pro651=) rs141507912 0.00013
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736 0.00013
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 0.00006
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1621T>C (p.Leu541=) rs371286473 0.00004
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala) rs200794965 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_005633.4(SOS1):c.2616T>G (p.Leu872=) rs768058218 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.3836C>T (p.Thr1279Ile) rs758258471 0.00002
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr) rs142094234 0.00002
NM_005633.4(SOS1):c.1170A>G (p.Ile390Met) rs1380491347 0.00001
NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser) rs397517151 0.00001
NM_005633.4(SOS1):c.1554A>G (p.Leu518=) rs765369803 0.00001
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp) rs137852814 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.3358G>A (p.Val1120Ile) rs368767111 0.00001
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 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.*400_*401dup rs10655655
NM_005633.4(SOS1):c.1200G>A (p.Leu400=) rs748636051
NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr) rs755862687
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1298_1300del (p.Glu433del) rs2124537642
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.1433C>G (p.Pro478Arg) rs1553356111
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met) 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.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.1867_1869delinsGAA (p.Phe623Glu) rs1572823606
NM_005633.4(SOS1):c.1935A>G (p.Ile645Met) rs2124520154
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.2611G>C (p.Val871Leu) rs1354107467
NM_005633.4(SOS1):c.2674-9del rs532594344
NM_005633.4(SOS1):c.2832C>T (p.Asn944=) rs868472772
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.3741C>T (p.Ala1247=) rs1668549002
NM_005633.4(SOS1):c.3967G>C (p.Gly1323Arg) rs2124454028
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.4(SOS1):c.599C>T (p.Thr200Ile) rs143007609
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005633.4(SOS1):c.946T>A (p.Ser316Thr) rs762569805

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