ClinVar Miner

List of variants studied for spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures by Baylor Genetics

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

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)	rs892958562	0.00109
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)	rs201547600	0.00061
NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln)	rs1199531500	0.00004
NM_080605.4(B3GALT6):c.598G>A (p.Glu200Lys)

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