ClinVar Miner

List of variants reported as uncertain significance for clubfoot

Included ClinVar conditions (19):

Brachydactyly-elbow wrist dysplasia syndrome; Clubfoot
Cleft soft palate; Clubfoot; Femoral bowing; Radial bowing; Ulnar bowing; Short femur; Aplasia/hypoplasia of the femur; Bowing of the long bones; Camptodactyly
Clubfoot
Clubfoot; Abnormal foot morphology; Cerebral cortical atrophy; Impaired vibration sensation in the lower limbs; Difficulty walking; EMG: axonal abnormality; Sensorimotor neuropathy; CNS demyelination; Hypertensive disorder; Gout
Clubfoot; Arthrogryposis multiplex congenita; Severe hydrocephalus
Clubfoot; Cutis laxa; Hyperextensible skin; Soft skin; Bruising susceptibility; Atrophic scars; Joint hypermobility; Bilateral talipes equinovarus; Joint hyperflexibility; Edema of the dorsum of feet
Clubfoot; EMG abnormality; Lower limb amyotrophy
Clubfoot; Encephalocele; Polydactyly, postaxial, type A1; Polycystic kidney disease; Oligohydramnios; Microcephaly; Narrow chest
Clubfoot; Gait disturbance; Impaired vibration sensation in the lower limbs; Shuffling gait; Distal muscle weakness; EMG: neuropathic changes; Progressive distal muscular atrophy; Foot dorsiflexor weakness
Clubfoot; Isolated Pierre-Robin syndrome; Periventricular nodular heterotopia; Hypocalcemia; Neurodevelopmental delay
Clubfoot; Polycystic kidney disease; Narrow chest; Hyperechogenic kidneys
Clubfoot; Polyhydramnios; Large for gestational age; Macrocephaly at birth; External ear malformation; Ventricular septal defect
Clubfoot; Renal cyst; Abnormality of the face; Cystic renal dysplasia; Abnormal finger morphology
Clubfoot; Seizure; Short stature; Atypical behavior; Aggressive behavior; Absent speech; Microcephaly; Lower limb hypertonia; Severe global developmental delay; Hypotonia
Clubfoot; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Abnormal pulmonary interstitial morphology; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus
Cryptorchidism; Hypertelorism; Clubfoot; Tapered finger; Abnormal facial shape; Short nose; Intellectual disability; Short distal phalanx of toe; Neuropathic spinal arthropathy
Dandy-Walker syndrome; Clubfoot; Micrognathia; Pleural effusion; Hydrocephalus; Flexed deformity
Epicanthus; Clubfoot; Psychotic episodes; Intellectual disability, mild; Joint hypermobility; Mild global developmental delay; Abnormal emotion
Macroglossia; Clubfoot; Retrognathia; Hypoglycemia; Anemia; Hepatomegaly; Enlarged kidney; Furrowed tongue; Hypertrophic cardiomyopathy; Persistent patent ductus venosus; Thrombocytopenia; Ventricular septal defect; Intracranial hemorrhage

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)	rs142594314	0.00128
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)	rs376283361	0.00057
NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter)	rs777064285	0.00012
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)	rs760873748	0.00003
NM_002653.5(PITX1):c.158C>T (p.Thr53Met)	rs777634577	0.00001
46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dn
NM_001605.3(AARS1):c.2054T>C (p.Val685Ala)	rs1555539904
NM_002653.5(PITX1):c.551G>C (p.Trp184Ser)
NM_002653.5(PITX1):c.683G>T (p.Ser228Ile)	rs1752403312
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)

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