List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, spondylodysplastic type, 1

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)	rs200503833	0.00019
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp)	rs187063864	0.00005
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr)	rs753594601	0.00001
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634

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