ClinVar Miner

List of variants studied for congenital diaphragmatic hernia by OMIM

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; 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	rs121908601	0.00293
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	rs121908603	0.00019
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)	rs121908602	0.00001
NM_003888.4(ALDH1A2):c.1040G>A (p.Arg347His)
NM_003888.4(ALDH1A2):c.1147G>A (p.Ala383Thr)
NM_003888.4(ALDH1A2):c.1382C>A (p.Ser461Tyr)
NM_003888.4(ALDH1A2):c.544C>A (p.Gln182Lys)
NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)
NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)	rs121908604

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