ClinVar Miner

List of variants in gene SOS1 reported as likely pathogenic

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr) rs142094234 0.00002
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly) rs730881042 0.00001
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp) rs137852814 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005633.4(SOS1):c.1009T>C (p.Tyr337His) rs2124562542
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1276C>A (p.Gln426Lys) rs1558474706
NM_005633.4(SOS1):c.1285A>G (p.Ile429Val) rs2124537717
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.4(SOS1):c.1296G>C (p.Trp432Cys)
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1316A>C (p.Gln439Pro) rs1057517861
NM_005633.4(SOS1):c.1355G>C (p.Arg452Pro)
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg) rs730881044
NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg) rs1553356111
NM_005633.4(SOS1):c.1455T>G (p.Asn485Lys)
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.1859A>G (p.Asp620Gly) rs1057517918
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.2105A>C (p.Tyr702Ser)
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg) rs1553354396
NM_005633.4(SOS1):c.224A>T (p.Gln75Leu) rs786205522
NM_005633.4(SOS1):c.255G>C (p.Trp85Cys)
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.305C>G (p.Pro102Arg) rs1553362937
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.323A>G (p.Glu108Gly) rs886041923
NM_005633.4(SOS1):c.323A>T (p.Glu108Val) rs886041923
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.406T>C (p.Tyr136His) rs1671229414
NM_005633.4(SOS1):c.445G>A (p.Val149Ile)
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.512T>G (p.Val171Gly) rs397517174
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_005633.4(SOS1):c.796A>C (p.Thr266Pro) rs2124596942
NM_005633.4(SOS1):c.797C>G (p.Thr266Arg) rs137852812
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg) rs1671004485
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn) rs397517180

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