List of variants in gene XYLT1 reported as pathogenic for Desbuquois dysplasia 2

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 8

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HGVS	dbSNP
NM_022166.4(XYLT1):c.1290-1G>A	rs1567300982
NM_022166.4(XYLT1):c.1290-2A>C	rs587777370
NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp)	rs587777366
NM_022166.4(XYLT1):c.276dup (p.Pro93fs)	rs587777369
NM_022166.4(XYLT1):c.281_306del (p.Gln94fs)	rs1567215615
NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter)	rs1567215600
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter)	rs587777368
NW_019805500.1:g.472169CCG[(100-833)]

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