List of variants in gene B4GALNT1 reported as likely benign 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001478.5(B4GALNT1):c.712+342T>G	rs715931	0.03250
NM_001478.5(B4GALNT1):c.1385-81C>T	rs813516	0.01491
NM_001478.5(B4GALNT1):c.531+72G>A	rs191557438	0.00709
NM_001478.5(B4GALNT1):c.812-7A>T	rs78105569	0.00555
NM_001478.5(B4GALNT1):c.1455C>G (p.Ser485=)	rs145611777	0.00327
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)	rs144922627	0.00325
NM_001478.5(B4GALNT1):c.1003-37T>C	rs146196810	0.00324
NM_001478.5(B4GALNT1):c.768G>A (p.Pro256=)	rs144400738	0.00306
NM_001478.5(B4GALNT1):c.712+194G>A	rs1382848	0.00213
NM_001478.5(B4GALNT1):c.1135C>T (p.Leu379=)	rs151177784	0.00147
NM_001478.5(B4GALNT1):c.1385-10C>T	rs200524912	0.00142
NM_001478.5(B4GALNT1):c.880G>A (p.Ala294Thr)	rs147301375	0.00138
NM_001478.5(B4GALNT1):c.532-12A>G	rs754916922	0.00001

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