ClinVar Miner

List of variants studied for chronic intestinal pseudoobstruction by Clinical Genetics Group, University of Otago

Included ClinVar conditions (7):

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
Chronic intestinal pseudoobstruction
Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Megacystis; Chronic intestinal pseudoobstruction
Visceral neuropathy, familial, 1, autosomal recessive
Visceral neuropathy, familial, 3, autosomal dominant

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.18_19del (p.Arg7fs)	rs398122521
NM_001110556.2(FLNA):c.2280+389T>A	rs1557178535

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