ClinVar Miner

List of variants reported as benign for congenital left-sided heart lesions by Labcorp Genetics (formerly Invitae), Labcorp

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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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004821.3(HAND1):c.468T>G (p.Ser156=)	rs34402828	0.04584
NM_004821.3(HAND1):c.531G>C (p.Arg177=)	rs34198899	0.04411
NM_004821.3(HAND1):c.162G>A (p.Pro54=)	rs138460675	0.00236
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp)	rs201302313	0.00175
NM_004821.3(HAND1):c.180G>A (p.Gly60=)	rs369386099	0.00070
NM_004821.3(HAND1):c.46C>A (p.Pro16Thr)	rs200556971	0.00026

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