List of variants in gene B3GALT6 reported as benign for Ehlers-Danlos syndrome, spondylodysplastic type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp)	rs12085009	0.10007
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile)	rs142820961	0.00455
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=)	rs368507303	0.00190
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=)	rs373668725	0.00050
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)	rs376811907	0.00045
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)	rs777778007	0.00020
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)	rs867336520
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup)	rs1553151151

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