List of variants in gene XYLT1 reported as pathogenic for Desbuquois dysplasia 1

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter)	rs1164720535	0.00001
NC_000016.9:g.(?_17564281)_(17564653_?)del
NM_022166.4(XYLT1):c.-110_280del (p.Met1_Gln94del)
NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter)
NM_022166.4(XYLT1):c.2026C>T (p.Arg676Ter)
NM_022166.4(XYLT1):c.2462G>A (p.Trp821Ter)

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