ClinVar Miner

List of variants in gene SOS1 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174

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