ClinVar Miner

List of variants reported as pathogenic for renal agenesis, unilateral

Included ClinVar conditions (8):

Autism; Cryptorchidism; Pulmonic stenosis; Sensorineural hearing loss disorder; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormal sternum morphology; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severely reduced visual acuity; Relative macrocephaly; Bilateral cleft lip; Cleft palate
Crouzon syndrome; Seizure; Unilateral renal agenesis; Facial asymmetry; Generalized non-motor (absence) seizure; Coronal craniosynostosis; Infantile axial hypotonia
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
Global developmental delay; Coarse facial features; Unilateral renal agenesis; Abnormal finger morphology
Short stature; Unilateral renal agenesis; Microcephaly; Intellectual disability; Neurodevelopmental delay
Toe syndactyly; Ambiguous genitalia; Unilateral renal agenesis; Cryptophthalmia; Abnormality of the anus; Finger syndactyly; Renal hypoplasia/aplasia; Cryptotia
Unilateral renal agenesis
Unilateral renal agenesis; Aplasia of the vagina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	rs765379963	0.00002
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)	rs767978562	0.00001
46;XY;t(6;12)(q14;q24);20p+dn
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858)
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924

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