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

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Total variants: 10

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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_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)	rs397514717	0.00001
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634
NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys)	rs969701761
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)	rs778123798
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)	rs1638566519
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)	rs1329926209
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr)	rs397514721

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