ClinVar Miner

List of variants reported as uncertain significance for bowel dysfunction

Included ClinVar conditions (13):

Anonychia; Failure to thrive; Constipation; Abnormality of the dentition; Abnormality of the skin; Nail pterygium; Sparse scalp hair; Discolored lateral incisors; Abnormal blistering of the skin; Nail dystrophy; Abnormal skin morphology; Generalized abnormality of skin; Irregular dentition; Hyperkeratotic papule
Cataract; Constipation; Urinary incontinence; Apraxia; Strabismus; Generalized hypotonia
Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Penile hypospadias; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve
Epicanthus; Pectus excavatum; Pulmonic stenosis; Motor delay; Autistic behavior; Constipation; Hypertonia; Ptosis; Hypermetropia; Macrotia; Abnormal facial shape; Delayed speech and language development; Prominent nose; Specific learning disability; Thin upper lip vermilion; Microcephaly; Overfolded helix; Recurrent otitis media; Prominent nasal bridge; Delayed closure of the anterior fontanelle; Broad foot; Dyscalculia; Finger syndactyly
Global developmental delay; Constipation; Abnormal facial shape; Recurrent urinary tract infections; Vesicoureteral reflux; Generalized hypotonia; Growth abnormality
Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Atrial septal defect, ostium secundum type; Clinodactyly of the 5th finger; Specific learning disability; Facial asymmetry; Increased red blood cell mass; Poor suck; Delayed skeletal maturation; Proportionate shortening of all digits; Abnormal facial skeleton morphology; Tics; Attention deficit hyperactivity disorder
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border
Migraine; Constipation; Abnormal blistering of the skin; Abnormal urinary color
Muscular dystrophy; Seizure; Short chin; Feeding difficulties; High palate; Constipation; Eczematoid dermatitis; Hip dislocation; Abnormal facial shape; Anteverted nares; Downslanted palpebral fissures; Protruding ear; Specific learning disability; Sparse and thin eyebrow; Congenital diaphragmatic hernia; Talipes; Tachypnea; Abnormality of mouth shape; Hypotonia
Pulmonic stenosis; Atrial septal defect; Autistic behavior; Aggressive behavior; Constipation; Aspiration; Coarse facial features; Delayed speech and language development; Emotional lability; Dry skin; Thickened skin; Severe global developmental delay; Asthma
Seizure; Failure to thrive; Constipation; Spasticity; Microcephaly; Intellectual disability; Severe global developmental delay; Hypotonia
Seizure; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight
Sudden cardiac death; Failure to thrive; Constipation; Jaundice; Generalized hypotonia; Infantile onset; Neonatal onset

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_014462.3(LSM1):c.231+4A>C	rs775468919	0.00003
NC_012920.1(MT-TT):m.15923A>G	rs1556424691
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277

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