ClinVar Miner

List of intergenic variants studied for Hypertelorism; Hyperhydroxyprolinemia; Enuresis; Sleep disturbance; Tall stature; Eczema; Delayed speech and language development; Frontal bossing; Triangular face; Thin upper lip vermilion; Recurrent otitis media; Microdontia; Neutropenia; Hypertriglyceridemia; Downturned corners of mouth; Increased blood urea nitrogen; Hypertyrosinemia; Sensory impairment; Delayed fine motor development; Abnormality of serine family amino acid metabolism; Bronchiolitis; Monocytopenia; Abnormal emotion/affect behavior; Encopresis; Asthma

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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