ClinVar Miner

List of variants in gene XYLT1 studied for Desbuquois dysplasia

Included ClinVar conditions (4):
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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) rs1457612277
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=) rs144531370
NM_022166.4(XYLT1):c.1290-1G>A rs1567300982
NM_022166.4(XYLT1):c.1290-2A>C rs587777370
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg)
NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp) rs587777366
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser)
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=) rs150492983
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.343G>T (p.Ala115Ser) rs61758388
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) rs587777368
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu)
NW_019805500.1:g.472169CCG[(100-833)]

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