List of variants in gene B3GALT6 reported as pathogenic for spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	rs786200938	0.00004
NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)	rs397514717	0.00001
NC_000001.11:g.1232202_1232288del
NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly)	rs397514719
NM_080605.4(B3GALT6):c.1A>C (p.Met1Leu)	rs786200938
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)	rs397514720
NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)	rs969701761
NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)
NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn)	rs397514718
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)	rs778123798
NM_080605.4(B3GALT6):c.521_528del (p.Glu174fs)
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu)	rs1553151294
NM_080605.4(B3GALT6):c.619G>C (p.Asp207His)	rs397514723
NM_080605.4(B3GALT6):c.636C>G (p.Tyr212Ter)
NM_080605.4(B3GALT6):c.84C>G (p.Tyr28Ter)
NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)	rs786200939

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