List of variants in gene B3GLCT reported as pathogenic by Eurofins NTD LLC (GA)

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_194318.4(B3GLCT):c.660+1G>A	rs80338851	0.00083
NM_194318.4(B3GLCT):c.1065-1G>A	rs371904655
NM_194318.4(B3GLCT):c.1067_1082del (p.Ile356fs)	rs794727108

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