ClinVar Miner

List of variants in gene B4GALT7 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)	rs28937869	0.00009
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634

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