ClinVar Miner

List of variants studied for vesicoureteral reflux by Baylor Genetics

Included ClinVar conditions (13):

Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8
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
Vesicoureteral reflux 2
Vesicoureteral reflux 3
Vesicoureteral reflux 8

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_001365276.2(TNXB):c.8761G>A (p.Val2921Met)	rs529485424	0.00013
NM_001395656.1(ROBO2):c.3926G>A (p.Arg1309Gln)	rs138700841	0.00011
NM_001365276.2(TNXB):c.5800A>C (p.Ile1934Leu)	rs780783028

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