List of variants in gene B3GALNT2 reported as likely pathogenic by ClinVar Staff, National Center for Biotechnology Information (NCBI)

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	rs367543072	0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)	rs367543074	0.00001
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)	rs367543073
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)	rs367543076

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