List of variants in gene B4GALT7 reported as pathogenic for Ehlers-Danlos syndrome, spondylodysplastic type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)	rs28937869	0.00009
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp)	rs187063864	0.00005
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp)	rs121917817	0.00002
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro)	rs375845310	0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr)	rs753594601	0.00001
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter)	rs1481659687	0.00001
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg)	rs1370937766
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro)	rs121917818

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