ClinVar Miner

List of variants in gene LOC102723692, XYLT1 studied for Desbuquois dysplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_022166.3(XYLT1):c.1588-3C>T rs201818754
NM_022166.3(XYLT1):c.1730_1733dup (p.Asp578Glufs) rs1085307563
NM_022166.3(XYLT1):c.1756C>T (p.Arg586Cys)
NM_022166.3(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367

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