ClinVar Miner

List of variants in gene SOS1 reported as likely pathogenic for gingival disorder

Included ClinVar conditions (8):

Autosomal dominant nonsyndromic hearing loss 27; Wilms tumor 6; Fibromatosis, gingival, 5
Epicanthus; Hypertelorism; Esotropia; Hirsutism; Macrotia; Mandibular prognathia; Depressed nasal bridge; Prominent nose; Abnormality of the tongue; Gingival overgrowth; Delayed eruption of primary teeth; Thickened skin; Short columella; Facial hyperostosis; Concave nasal ridge; Long upper lip
Fibromatosis, gingival, 1
Fibromatosis, gingival, 1; Noonan syndrome 4
Fibromatosis, gingival, 5
Gingival disorder
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border
Seizure; Abnormal facial shape; Gingival overgrowth; Intellectual disability; Generalized hypertrichosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg)	rs730881044
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)	rs727505093
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg)	rs1553354396
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs)	rs387906518

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