ClinVar Miner

List of variants studied for congenital left-sided heart lesions by University of Washington Center for Mendelian Genomics, University of Washington

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
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)	rs61751489	0.01849
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)	rs61751543	0.01655
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)	rs756972680	0.00007
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.7178A>G (p.Gln2393Arg)	rs1842918022

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