ClinVar Miner

List of variants reported as pathogenic for congenital left-sided heart lesions by OMIM

Included ClinVar conditions (8):

Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia; Atrioventricular septal defect and common atrioventricular junction; Craniometaphyseal dysplasia, autosomal recessive; Hypoplastic left heart syndrome 1; Oculodentodigital dysplasia, autosomal recessive; Syndactyly type 3; Oculodentodigital dysplasia; Erythrokeratodermia variabilis et progressiva 3
Hydronephrosis; Pulmonary hypoplasia; Hydroureter; Aplasia/hypoplasia involving bones of the lower limbs; Absence of the sacrum; Hypoplastic left heart syndrome
Hypoplastic left heart syndrome
Hypoplastic left heart syndrome 1
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia disorder
Hypoplastic left heart syndrome 2
Polydactyly; Heart, malformation of; Abnormal vertebral morphology; Hypoplastic left heart syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)	rs28936670	0.01082
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)	rs104893965	0.00019
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)	rs2227885	0.00014

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