ClinVar Miner

List of variants reported as uncertain significance for dysautonomia

Included ClinVar conditions (3):

Cardiac arrhythmia; Diabetes mellitus type 1; Atrial septal defect; Tricuspid regurgitation; Abnormal facial shape; Strabismus; Mitral regurgitation; Abnormal autonomic nervous system physiology; Abnormal periventricular white matter morphology; Ectopic pancreatic tissue; Abnormality of skin physiology; Abnormal renal morphology; Vasovagal syncope
Pancytopenia; Arthritis; Abnormal autonomic nervous system physiology; Gastrointestinal dysmotility; Polyarticular arthritis; Sinus tachycardia; Chronic pain; Inappropriate sinus tachycardia
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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val)	rs1216879928	0.00001
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)	rs1265349835	0.00001
46;XX;inv(14)(q24.1q32.1)dn

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