List of variants in gene SOS1 reported as uncertain significance for Noonan syndrome and Noonan-related syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	rs139290271	0.00054
NM_005633.4(SOS1):c.*4C>T	rs188849286	0.00018
NM_005633.4(SOS1):c.3347-1G>A	rs141565234	0.00017
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)	rs371408734	0.00016
NM_005633.4(SOS1):c.1953A>G (p.Pro651=)	rs141507912	0.00013
NM_005633.4(SOS1):c.599C>G (p.Thr200Ser)	rs143007609	0.00003
NM_005633.4(SOS1):c.890C>T (p.Ser297Leu)	rs779162761	0.00003
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)	rs758258471	0.00002
NM_005633.4(SOS1):c.1170A>G (p.Ile390Met)	rs1380491347	0.00001
NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser)	rs397517151	0.00001
NM_005633.4(SOS1):c.1554A>G (p.Leu518=)	rs765369803	0.00001
NM_005633.4(SOS1):c.3358G>A (p.Val1120Ile)	rs368767111	0.00001
NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val)	rs374497013	0.00001
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu)	rs367693130	0.00001
NM_005633.4(SOS1):c.400_401dup	rs10655655
NM_005633.4(SOS1):c.1200G>A (p.Leu400=)	rs748636051
NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr)	rs755862687
NM_005633.4(SOS1):c.1298_1300del (p.Glu433del)	rs2124537642
NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg)	rs1553356111
NM_005633.4(SOS1):c.1867_1869delinsGAA (p.Phe623Glu)	rs1572823606
NM_005633.4(SOS1):c.1935A>G (p.Ile645Met)	rs2124520154
NM_005633.4(SOS1):c.2611G>C (p.Val871Leu)	rs1354107467
NM_005633.4(SOS1):c.2832C>T (p.Asn944=)	rs868472772
NM_005633.4(SOS1):c.3741C>T (p.Ala1247=)	rs1668549002
NM_005633.4(SOS1):c.3967G>C (p.Gly1323Arg)	rs2124454028
NM_005633.4(SOS1):c.599C>T (p.Thr200Ile)	rs143007609
NM_005633.4(SOS1):c.946T>A (p.Ser316Thr)	rs762569805

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