ClinVar Miner

List of variants studied for gingival disorder by Baylor Genetics

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005612.5(REST):c.238G>A (p.Gly80Arg)	rs1342633562
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)	rs397517148
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	rs397517154

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