ClinVar Miner

List of variants in gene combination LOC102723692, XYLT1 reported as uncertain significance for bone development disease

Included ClinVar conditions (618):
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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_022166.4(XYLT1):c.1764+3G>A rs147978944 0.00033
NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met) rs754790920 0.00026
NM_022166.4(XYLT1):c.1807G>A (p.Val603Met) rs187270026 0.00022
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly) rs200053698 0.00013
NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser) rs147101412 0.00010
NM_022166.4(XYLT1):c.1764+4A>G rs757836390 0.00006
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr) rs770446499 0.00006
NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln) rs190383164 0.00006
NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr) rs141257295 0.00005
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) rs573652692 0.00004
NM_022166.4(XYLT1):c.1588T>G (p.Ser530Ala) rs148992515 0.00003
NM_022166.4(XYLT1):c.1730A>G (p.Asn577Ser) rs368060072 0.00003
NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg) rs556515927 0.00003
NM_022166.4(XYLT1):c.1627G>A (p.Asp543Asn) rs551025574 0.00002
NM_022166.4(XYLT1):c.1633A>G (p.Met545Val) rs747718750 0.00002
NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn) rs750411891 0.00002
NM_022166.4(XYLT1):c.1638G>A (p.Val546=) rs2030849015 0.00001
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn) rs770094750 0.00001
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367 0.00001
NM_022166.4(XYLT1):c.1939G>A (p.Val647Met) rs756272760 0.00001
NM_022166.4(XYLT1):c.1970G>A (p.Arg657His) rs748655641 0.00001
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) rs1275156523 0.00001
NM_022166.4(XYLT1):c.1601C>T (p.Thr534Met)
NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)
NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)
NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys) rs2141515545
NM_022166.4(XYLT1):c.1765-8G>A
NM_022166.4(XYLT1):c.1793G>A (p.Arg598His)
NM_022166.4(XYLT1):c.1852G>A (p.Gly618Arg)
NM_022166.4(XYLT1):c.1883G>A (p.Arg628His)
NM_022166.4(XYLT1):c.1952T>G (p.Leu651Trp)
NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu)

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