ClinVar Miner

List of variants in gene combination LOC102723692, XYLT1 reported as uncertain significance for Desbuquois dysplasia

Included ClinVar conditions (4):
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Total variants: 8
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HGVS dbSNP
NM_022166.4(XYLT1):c.1588-3C>T rs201818754
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly)
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn)
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr) rs770446499
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) rs1275156523
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) rs573652692

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