ClinVar Miner

List of variants in gene combination LOC102723692, XYLT1 reported as pathogenic for Desbuquois dysplasia 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_022166.4(XYLT1):c.1651C>T (p.Arg551Cys) rs776422861 0.00001
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367 0.00001
NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) rs1085307563

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