ClinVar Miner

List of variants reported as pathogenic for Desbuquois dysplasia 1 by Invitae

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter) rs1164720535 0.00001
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) rs587777368 0.00001
NC_000016.10:g.(?_17108675)_(17470816_?)del
NC_000016.9:g.(?_15758636)_(17564653_?)del
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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