ClinVar Miner

List of variants studied for visceral heterotaxy by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (28):

Congenital heart defects, multiple types, 1, X-linked
Dextrocardia
Dextrocardia; Conotruncal defect
Familial atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Visceral heterotaxy; Single Ventricle Defect
Heterotaxy, visceral, 1, X-linked
Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked, with or without hydrocephalus
Heterotaxy, visceral, 10, autosomal, with male infertility
Heterotaxy, visceral, 11, autosomal, with male infertility
Heterotaxy, visceral, 12, autosomal
Heterotaxy, visceral, 2, autosomal
Heterotaxy, visceral, 4, autosomal
Heterotaxy, visceral, 5, autosomal
Heterotaxy, visceral, 6, autosomal
Heterotaxy, visceral, 7, autosomal
Heterotaxy, visceral, 8, autosomal
Heterotaxy, visceral, 9, autosomal, with male infertility
Laterality defects, autosomal dominant
Male infertility; Recurrent otitis media; Recurrent sinusitis; Situs inversus; Bronchiectasis
Male infertility; Recurrent sinusitis; Situs inversus; Bronchiectasis
Oculomotor apraxia; Situs inversus
Primary ciliary dyskinesia; Abdominal situs inversus
Primary ciliary dyskinesia; Absent inner and outer dynein arms; Situs inversus
Primary ciliary dyskinesia; Situs inversus
Right atrial isomerism
Right atrial isomerism; Congenital heart defects, multiple types, 6
Situs inversus
Visceral heterotaxy
Visceral heterotaxy; Heterotaxy, visceral, 8, autosomal

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138295.5(PKD1L1):c.7418C>T (p.Ser2473Phe)	rs140456142	0.00080
NM_138295.5(PKD1L1):c.913C>T (p.Pro305Ser)	rs201201664	0.00024

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