ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 25
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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.1770G>A (p.Glu590=) rs553331572 0.00022
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_005633.4(SOS1):c.3072C>T (p.Leu1024=) rs558386297 0.00013
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
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.141T>C (p.Tyr47=) rs201649682 0.00003
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 0.00001

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