ClinVar Miner

List of variants studied for X-linked Ehlers-Danlos syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (5):

Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1
Cardiac valvular dysplasia, X-linked; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Oto-palato-digital syndrome, type I
Cardiac valvular dysplasia, X-linked; Heterotopia, periventricular, X-linked dominant; Otopalatodigital Spectrum Disorders

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.958G>A (p.Val320Met)	rs781889196	0.00018
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)	rs782555986	0.00004
NM_001110556.2(FLNA):c.3034T>G (p.Ser1012Ala)	rs1364359427	0.00001
NM_001110556.2(FLNA):c.1396C>T (p.Pro466Ser)	rs1263621847

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.