List of variants in gene B4GALT7 studied for bone development disease

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)	rs756942664	0.00015
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln)	rs375644526	0.00013
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)	rs28937869	0.00009
NM_007255.3(B4GALT7):c.737C>T (p.Ser246Leu)	rs145692398	0.00006
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp)	rs187063864	0.00005
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)	rs138496419	0.00003
NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe)	rs774917613	0.00001
NM_007255.3(B4GALT7):c.639+5G>A	rs1421361359	0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr)	rs753594601	0.00001
NM_007255.3(B4GALT7):c.685G>A (p.Asp229Asn)	rs753374573	0.00001
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634
NM_007255.3(B4GALT7):c.313T>G (p.Phe105Val)	rs1131691521
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg)	rs1370937766
NM_007255.3(B4GALT7):c.640-12T>A
NM_007255.3(B4GALT7):c.667G>A (p.Gly223Ser)

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