ClinVar Miner

List of variants studied for Chiari malformation

Included ClinVar conditions (3):

Chiari malformation
Epicanthus; Corpus callosum, agenesis of; Esotropia; Global developmental delay; Hemihypertrophy; Inguinal hernia; Atypical behavior; Scoliosis; Overgrowth; Unsteady gait; Abnormal facial shape; Poor head control; Hydrocephalus; Facial asymmetry; Gait imbalance; Poor motor coordination; Chiari malformation; Cortical dysplasia; High, narrow palate; Increased mean corpuscular volume; Metopic synostosis; Heart murmur; Ventricular septal defect; Attention deficit hyperactivity disorder; Asthma
Seizure; Speech apraxia; Apraxia; Chiari malformation; Intellectual disability, moderate

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
46;XY;t(1;3)(p22;q21)dn
NM_003070.5(SMARCA2):c.2156T>C (p.Leu719Pro)	rs1586680296
NM_022113.6(KIF13A):c.3364A>G (p.Lys1122Glu)

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