ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_022166.3(XYLT1):c.1290-1G>A
NM_022166.3(XYLT1):c.1290-2A>C rs587777370
NM_022166.3(XYLT1):c.1441C>T (p.Arg481Trp) rs587777366
NM_022166.3(XYLT1):c.281_306del (p.Gln94Argfs)
NM_022166.3(XYLT1):c.319G>T (p.Gly107Ter)
NM_022166.3(XYLT1):c.439C>T (p.Arg147Ter) rs587777368
NM_022166.4(XYLT1):c.276dup (p.Pro93Alafs) rs587777369
NW_019805500.1:g.472169CCG[(100-833)]

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