ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, spondylodysplastic type, 2 by Division of Biology and Genetics, University of Brescia

Included ClinVar conditions (4):

Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.227del (p.Ile76fs)	rs1638539773
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)	rs1638566519

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