List of variants in gene B4GALT1 reported by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001497.4(B4GALT1):c.*1675dup	rs113144091	0.03000
NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu)	rs150774756	0.00011
NM_001497.4(B4GALT1):c.*2398del	rs886063861	0.00001
NM_001497.4(B4GALT1):c.*714G>C	rs886063871	0.00001
NM_001497.4(B4GALT1):c.*1087dup	rs753854896
NM_001497.4(B4GALT1):c.*1874C>T	rs886063865
NM_001497.4(B4GALT1):c.*1890del	rs3841451
NM_001497.4(B4GALT1):c.*2172GTT[1]	rs754771244
NM_001497.4(B4GALT1):c.2172_2176del	rs886063864
NM_001497.4(B4GALT1):c.2200_2203del	rs751351046
NM_001497.4(B4GALT1):c.*2718G>C	rs886063859
NM_001497.4(B4GALT1):c.*705dup	rs779761525
NM_001497.4(B4GALT1):c.*730AGAA[1]	rs537888935

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.