ClinVar Miner

List of variants reported as uncertain significance for frontometaphyseal dysplasia 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (5):

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
Frontometaphyseal dysplasia 1
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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)	rs797045579	0.00003
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)	rs782445995	0.00002
NM_001110556.2(FLNA):c.4474+3G>T	rs1286863443	0.00001
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)	rs1569551838
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)	rs1557177412
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)	rs1569551874
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)

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