ClinVar Miner

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

Included ClinVar conditions (4):
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Total variants: 18
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HGVS dbSNP
NC_000016.10:g.(?_17108675)_(17470816_?)del
NM_022166.4(XYLT1):c.1588-3C>T rs201818754
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=) rs138560456
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly)
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=) rs377097003
NM_022166.4(XYLT1):c.1686G>A (p.Lys562=) rs143303539
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=) rs139802880
NM_022166.4(XYLT1):c.1716C>T (p.Cys572=) rs765001631
NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) rs1085307563
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) rs146414934
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=) rs34653270
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.1918G>A (p.Gly640Ser) rs146288199
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) rs1275156523
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) rs573652692

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