ClinVar Miner

List of variants reported as uncertain significance for obsolete Ehlers-Danlos syndrome with periventricular heterotopia by Claritas Genomics

Included ClinVar conditions (8):

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; Otopalatodigital Spectrum Disorders
Heterotopia, periventricular, X-linked dominant
Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.1429+8C>T	rs202181557	0.00156
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)	rs200130356	0.00081
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)	rs377390031	0.00006
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu)	rs782193139	0.00005
NM_001110556.2(FLNA):c.2023-6C>T	rs372021340	0.00004
NM_001110556.2(FLNA):c.623-20_623-12del	rs786205200

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