ClinVar Miner

List of variants in gene combination LOC129933535, SOS1 reported as likely benign for RASopathy

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_005633.4(SOS1):c.87+15G>C rs375493196 0.00018
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser) rs533757634 0.00009
NM_005633.4(SOS1):c.66A>G (p.Leu22=) rs770539511 0.00003
NM_005633.4(SOS1):c.9G>A (p.Ala3=) rs566601513 0.00003
NM_005633.4(SOS1):c.39A>G (p.Glu13=) rs763337946 0.00002
NM_005633.4(SOS1):c.87+12G>T rs368569135 0.00002
NM_005633.4(SOS1):c.51C>T (p.Pro17=) rs567678325 0.00001
NM_005633.4(SOS1):c.20C>T (p.Pro7Leu)
NM_005633.4(SOS1):c.21C>G (p.Pro7=) rs727504845
NM_005633.4(SOS1):c.21C>T (p.Pro7=) rs727504845
NM_005633.4(SOS1):c.36C>T (p.Ser12=)
NM_005633.4(SOS1):c.48G>A (p.Ala16=)
NM_005633.4(SOS1):c.75T>A (p.Pro25=) rs1267148141
NM_005633.4(SOS1):c.87+10A>G
NM_005633.4(SOS1):c.87+16G>C
NM_005633.4(SOS1):c.87+16G>T
NM_005633.4(SOS1):c.87+18C>T rs189109845
NM_005633.4(SOS1):c.87+19C>G

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