ClinVar Miner

List of variants in gene SOS1 studied for Noonan syndrome 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr) rs730881043
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1653_1655del (p.Arg552del)
NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile)
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_005633.3(SOS1):c.806T>G (p.Met269Arg) rs137852813

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