ClinVar Miner

List of variants in gene SOS1 reported by ClinGen RASopathy Variant Curation Expert Panel

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Gene type:
ClinVar version:
Total variants: 63
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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.2673+14T>C rs183998234 0.00304
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.2238T>C (p.Asn746=) rs75877625 0.00084
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.698A>G (p.Asn233Ser) rs144934321 0.00026
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.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_005633.4(SOS1):c.3072C>T (p.Leu1024=) rs558386297 0.00013
NM_005633.4(SOS1):c.3330G>C (p.Ser1110=) rs146383828 0.00013
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736 0.00013
NM_005633.4(SOS1):c.1647A>G (p.Thr549=) rs139683425 0.00011
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_005633.4(SOS1):c.2010G>C (p.Leu670Phe) rs200712930 0.00008
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.2156G>C (p.Gly719Ala) rs200794965 0.00004
NM_005633.4(SOS1):c.141T>C (p.Tyr47=) rs201649682 0.00003
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168 0.00003
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_005633.4(SOS1):c.899G>A (p.Arg300Gln) rs754374236 0.00002
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp) rs137852814 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 0.00001
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00001
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1645A>G (p.Thr549Ala) rs1558474335
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 (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.1666G>A (p.Val556Ile) rs753909912
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.225A>G (p.Gln75=) rs560037748
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.294G>A (p.Lys98=) rs748478952
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
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.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg) rs1671004485

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