ClinVar Miner

List of variants studied for congenital diaphragmatic hernia by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (13):

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
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
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
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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002430.3(MN1):c.3839del (p.Cys1280fs)	rs1601319594
NM_006767.4(LZTR1):c.955del (p.Gln319fs)	rs1386054181
NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)

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