ClinVar Miner

List of variants reported as likely benign for vesicoureteral reflux 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):

Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux
Epicanthus; Telecanthus; Blepharophimosis; Renal hypoplasia; Abnormal facial shape; Bulbous nose; Vesicoureteral reflux; Hypoplasia of the maxilla; Intellectual disability; Poor speech
Global developmental delay; Constipation; Abnormal facial shape; Recurrent urinary tract infections; Vesicoureteral reflux; Generalized hypotonia; Growth abnormality
Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Intellectual disability; Renal atrophy; Attention deficit hyperactivity disorder
Global developmental delay; Motor delay; Short stature; Failure to thrive; Febrile seizure (within the age range of 3 months to 6 years); Delayed speech and language development; Exotropia; Vesicoureteral reflux; Microcephaly; Thrombocytopenia
Motor delay; Delayed speech and language development; Vesicoureteral reflux; Strabismus
Plagiocephaly; Global developmental delay; Pyloric stenosis; Penile hypospadias; Vesicoureteral reflux; Megacolon; Ventricular septal defect
Plagiocephaly; Seizure; Vesicoureteral reflux; Horseshoe kidney; Intellectual disability, mild
Vesicoureteral reflux

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_001395656.1(ROBO2):c.*1619dup	rs530776423	0.00045
NM_001395656.1(ROBO2):c.*3288del	rs566529890
NM_001395656.1(ROBO2):c.*3608dup	rs548297436

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