ClinVar Miner

List of variants in gene NKX2-5 reported as likely benign for congenital left-sided heart lesions

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=)	rs374150672	0.00023
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)	rs368366482	0.00013
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=)	rs754229011	0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)	rs376792087	0.00006

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