List of variants in gene combination B4GALT7, LOC129995400 reported as likely benign for Ehlers-Danlos syndrome progeroid 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.15G>A (p.Arg5=)	rs778740793	0.00001
NM_007255.3(B4GALT7):c.50+13G>T	rs746553066	0.00001
NM_007255.3(B4GALT7):c.50+20C>A	rs1259555733	0.00001
NM_007255.3(B4GALT7):c.50+9C>T	rs1180310359	0.00001
NM_007255.3(B4GALT7):c.18G>A (p.Arg6=)
NM_007255.3(B4GALT7):c.27G>A (p.Ala9=)	rs1448005107
NM_007255.3(B4GALT7):c.33G>A (p.Leu11=)	rs1005210482
NM_007255.3(B4GALT7):c.50+14G>A
NM_007255.3(B4GALT7):c.50+5GCG[4]

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