ClinVar Miner

Variants in gene SOS1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
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.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu) rs199898869 0.00005
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_005633.4(SOS1):c.3391+3T>C rs761579423 0.00001
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172

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