ClinVar Miner

List of variants studied for ear malformation by 3billion

Included ClinVar conditions (11):

Auriculocondylar syndrome
Auriculocondylar syndrome 1
Auriculocondylar syndrome 2
Auriculocondylar syndrome 2; Auriculocondylar syndrome 2B
Auriculocondylar syndrome 3
Auriculocondylar syndrome 4
Ear malformation
Ear malformation; Failure to thrive; Hypotelorism; High palate; Pes planus; Hypernasal speech; Delayed speech and language development; Triangular face; Intellectual disability, mild; Generalized hypotonia; Leukopenia; Normocytic anemia; Clinodactyly; Attention deficit hyperactivity disorder
Ear malformation; Olivopontocerebellar atrophy; Global developmental delay; Motor delay; Autistic behavior; Hearing impairment; Tall stature; Clinodactyly of the 5th finger; Delayed speech and language development; Hypoplastic nipples; Abnormal retinal vascular morphology; Generalized neonatal hypotonia; Abnormal number of hair whorls; Delayed myelination; Abnormality of the tonsils; Attention deficit hyperactivity disorder; Abnormal nasopharyngeal adenoid morphology
Epicanthus; Ear malformation; Global developmental delay; Autistic behavior; Abnormal facial shape; Absent speech; Joint laxity; Achalasia; Abnormal muscle tone; Hypoplasia of the frontal lobes; Abnormality of the gastrointestinal tract; EEG with abnormally slow frequencies; Prominent forehead; Delayed myelination
Question mark ears, isolated

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
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)	rs1568763104
NM_001377142.1(PLCB4):c.2050G>A (p.Gly684Arg)	rs2039824942
NM_006496.4(GNAI3):c.146T>C (p.Ile49Thr)	rs1553223899

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