ClinVar Miner

List of variants studied for conductive hearing loss disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (6):

Coloboma of optic nerve; Piebaldism; Unsteady gait; Conductive hearing impairment; Hyperpigmentation of the skin; Bruising susceptibility; Hypopigmented skin patches; Intellectual disability, mild; Joint laxity; Bulbous tips of toes; White forelock; Abnormality of thyroid physiology; Reduced visual acuity; Lower limb asymmetry; Hyperconvex toenail; Ventricular septal defect
Global developmental delay; Ptosis; Clinodactyly of the 5th finger; Conductive hearing impairment; Intellectual disability; Short foot; Short palm; Unilateral cryptorchidism
Global developmental delay; Seizure; Abnormal facial shape; Conductive hearing impairment; Delayed speech and language development
Hypertelorism; Keloid formation; Inversion of nipple; Global developmental delay; Seizure; Feeding difficulties; Vomiting; EEG abnormality; Anteverted nares; Cafe-au-lait spot; Conductive hearing impairment; Decreased testicular size; Delayed speech and language development; Wide nasal bridge; Thin upper lip vermilion; Recurrent otitis media; Downturned corners of mouth; Clinodactyly of the 3rd toe; Finger clinodactyly; Small scrotum; Hypotonia
Short chin; Abnormal eyebrow morphology; Conductive hearing impairment; Single transverse palmar crease; Short lingual frenulum; Macrocephaly; Long philtrum; Reduced bone mineral density; Disproportionate short-limb short stature
Short stature; Conductive hearing impairment; Cleft palate

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_080680.3(COL11A2):c.4559G>A (p.Arg1520His)	rs772567850	0.00006
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)	rs28935469
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	rs886041125

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