ClinVar Miner

List of variants in gene USH2A studied for anxiety

Included ClinVar conditions (17):

Abdominal pain; Anxiety; Elevated urinary delta-aminolevulinic acid; Acute episodes of neuropathic symptoms
Anxiety
Anxiety; Intellectual disability
Astigmatism; Global developmental delay; Failure to thrive; Micrognathia; Thin vermilion border; Narrow mouth; Anxiety; Attention deficit hyperactivity disorder
Autism; Autistic behavior; Delayed speech and language development; Anxiety; Joint laxity; Mild global developmental delay
Autism; Precocious puberty; Autistic behavior; Expressive language delay; Hyperactivity; Hearing impairment; Pes planus; Macrocephaly; Anxiety; Tremor; Attention deficit hyperactivity disorder
Autistic behavior; Growth delay; Agitation; Anxiety; Intellectual disability; Poor speech; Recurrent fractures; Reduced bone mineral density
Cerebellar ataxia; Anxiety; Attention deficit hyperactivity disorder
Cerebral palsy; Abnormal facial shape; Arachnoid cyst; Anxiety; Intellectual disability
Cleft upper lip; Motor delay; Enuresis; Abnormal skull morphology; Delayed speech and language development; Facial asymmetry; Anxiety; Intellectual disability, mild; Mild global developmental delay; Heart murmur
Cryptorchidism; Global developmental delay; Autistic behavior; Expressive language delay; Seizure; Failure to thrive; Growth delay; Receptive language delay; Abnormal facial shape; Unilateral renal agenesis; Anxiety; Missing ribs; Delayed gross motor development; Delayed fine motor development; Dilatation of the sinus of Valsalva
Delayed speech and language development; Specific learning disability; Anxiety; Irregular hyperpigmentation; Chronic constipation; Combined immunodeficiency
Hypotelorism; Low-set ears; Hypertonia; Nystagmus; Pointed chin; Protruding ear; Horizontal nystagmus; Anxiety; Phonophobia
Hypothyroidism; Anxiety; Polyarticular arthritis
Obesity; Motor delay; Self-injurious behavior; Sleep abnormality; Depression; Overgrowth; Delayed speech and language development; Macrocephaly; Emotional lability; Agitation; Anxiety; Sleep apnea; Mild global developmental delay
Seizure; Dyslexia; Delayed speech and language development; Compulsive behaviors; Anxiety; Attention deficit hyperactivity disorder
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Abnormal autonomic nervous system physiology; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal upper limb bone morphology

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)	rs1265349835	0.00001

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