ClinVar Miner

List of variants studied for diaphragm disorder by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (16):

Abnormal cardiovascular system morphology; Congenital diaphragmatic hernia
Atrial septal defect; Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
Cryptorchidism; Fetal growth restriction; Pulmonary hypoplasia; Single umbilical artery; Penile hypospadias; Microretrognathia; Long philtrum; Congenital diaphragmatic hernia; Right ventricular hypertrophy
Dandy-Walker syndrome; Congenital laryngomalacia; Sensorineural hearing loss disorder; Duane retraction syndrome; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Night blindness; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Small hand; Cleft palate
Diaphragmatic eventration
Diaphragmatic hernia 3
Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9
Diaphragmatic hernia 4, with cardiovascular defects
Ebstein anomaly; Heart, malformation of; Abnormal facial shape; Congenital diaphragmatic hernia; Ventriculomegaly; Stillbirth; Common atrium
Global developmental delay; Seizure; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate
Heart, malformation of; Abnormality of the genitourinary system; Congenital diaphragmatic hernia
Hernia, anterior diaphragmatic
Hypertelorism; Megalencephaly, autosomal dominant; Diaphragmatic eventration; Abnormality of the hairline; Intestinal duplication
Muscular dystrophy; Seizure; Short chin; Feeding difficulties; High palate; Constipation; Eczema; 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
Scoliosis; Pulmonary hypoplasia; Labial hypoplasia; Congenital diaphragmatic hernia; Bicornuate uterus; Cutis laxa; Small thenar eminence; Olfactory lobe agenesis; Abnormality of the abdominal wall; Thoracic hypoplasia; Clinodactyly; Camptodactyly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	rs2234675	0.02573
NM_001927.4(DES):c.638C>T (p.Ala213Val)	rs41272699	0.01015
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)	rs56391007	0.00911
NM_000138.5(FBN1):c.4970_4971insA (p.Cys1658fs)	rs864309713
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)	rs41298151
NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu)	rs2147577404
NM_005032.7(PLS3):c.617C>T (p.Ala206Val)	rs2147551760

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