ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, spondylodysplastic type, 2 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
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

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val)	rs1422897152	0.00001
NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp)	rs1638554377
NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp)	rs1004549168

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