ClinVar Miner

List of variants in gene SOS1 reported as likely pathogenic for Noonan syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
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.1293_1294delinsGA (p.Trp432Arg) rs1572830693
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.1430A>G (p.Gln477Arg) rs730881044
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
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.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.3248dup (p.Arg1084fs) rs387906518
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.445G>A (p.Val149Ile)
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn) rs397517180

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