ClinVar Miner

List of variants reported as likely pathogenic 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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
46;XY;inv(10)(q21.2q22.3)pat
NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp)
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)	rs587784067
NM_014209.4(ETV2):c.350del (p.Gly117fs)	rs755996862
NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)	rs371833362
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter)	rs202235419
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs)	rs1843262329
NM_017617.5(NOTCH1):c.2741-1G>A	rs1843152606
NM_017617.5(NOTCH1):c.5385-1G>A	rs1843006535

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