ClinVar Miner

List of variants reported as likely pathogenic for vesicoureteral reflux by Revvity Omics, Revvity

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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001365276.2(TNXB):c.1650_1651del (p.Glu552fs)	rs761635725	0.00002
NM_001365276.2(TNXB):c.10291C>T (p.Arg3431Ter)
NM_001365276.2(TNXB):c.200_208delinsTGGAAGG (p.Gly67fs)
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
NM_001365276.2(TNXB):c.5882_5883del (p.Val1961fs)	rs2151915093
NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys)	rs759929653
NM_001365276.2(TNXB):c.9758-2_9758-1del	rs2151891292

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