List of variants reported as pathogenic for Desbuquois dysplasia 2 by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_022166.4(XYLT1):c.1588-3C>T	rs201818754	0.00132
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)	rs587777367	0.00001
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter)	rs587777368	0.00001
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.1730_1733dup (p.Asp578delinsGluTer)	rs1085307563
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
NW_019805500.1:g.472169CCG[(100-833)]

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