List of variants in gene B3GALT6 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys)	rs886138913	0.00002
NM_080605.4(B3GALT6):c.353del (p.Asp118fs)	rs750088530	0.00001
NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser)	rs760685441	0.00001
NM_080605.4(B3GALT6):c.239G>A (p.Trp80Ter)	rs1553151208
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)	rs969701761
NM_080605.4(B3GALT6):c.425G>A (p.Trp142Ter)
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)	rs1638552845
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)	rs778123798
NM_080605.4(B3GALT6):c.588del (p.Arg197fs)	rs533071750
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)	rs533071750
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu)	rs988906237

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