ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1989C>T (p.Ala663=) rs12708815 0.51842
NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met) rs79030430 0.01493
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=) rs34653270 0.00640
NM_022166.4(XYLT1):c.1848G>C (p.Leu616=) rs150301505 0.00258
NM_022166.4(XYLT1):c.1854G>T (p.Gly618=) rs77836443 0.00230
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=) rs139802880 0.00092
NM_022166.4(XYLT1):c.1765-3C>T rs192023037 0.00073
NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys) rs137935662 0.00068
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) rs146414934 0.00061
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser) rs146288199 0.00046
NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=) rs139156211 0.00043
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.1917C>T (p.Asp639=) rs769324855 0.00012
NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser) rs147101412 0.00010
NM_022166.4(XYLT1):c.1686G>A (p.Lys562=) rs143303539 0.00008
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=) rs138560456 0.00007
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=) rs377097003 0.00006
NM_022166.4(XYLT1):c.1629C>T (p.Asp543=) rs772951019 0.00006
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.1716C>T (p.Cys572=) rs765001631 0.00005
NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr) rs141257295 0.00005
NM_022166.4(XYLT1):c.1953G>A (p.Leu651=) rs759912114 0.00004
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.1938C>T (p.Asp646=) rs377015583 0.00003
NM_022166.4(XYLT1):c.1590C>T (p.Ser530=) rs754108822 0.00002
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.1764+11C>G rs188563835 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.1651C>T (p.Arg551Cys) rs776422861 0.00001
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn) rs770094750 0.00001
NM_022166.4(XYLT1):c.1764+19C>T rs915382546 0.00001
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367 0.00001
NM_022166.4(XYLT1):c.1875G>A (p.Pro625=) rs182016158 0.00001
NM_022166.4(XYLT1):c.1935C>T (p.Ser645=) rs543473631 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.1995G>A (p.Thr665=) rs779046536 0.00001
NM_022166.4(XYLT1):c.1588-15C>G
NM_022166.4(XYLT1):c.1588-28_1588-3dup rs545474455
NM_022166.4(XYLT1):c.1588-35_1588-19del rs762567877
NM_022166.4(XYLT1):c.1588-9C>A rs772084738
NM_022166.4(XYLT1):c.1588-9C>T
NM_022166.4(XYLT1):c.1601C>T (p.Thr534Met)
NM_022166.4(XYLT1):c.1606C>T (p.Leu536=)
NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)
NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)
NM_022166.4(XYLT1):c.1659C>T (p.Thr553=)
NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys) rs2141515545
NM_022166.4(XYLT1):c.1677G>A (p.Leu559=)
NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) rs1085307563
NM_022166.4(XYLT1):c.1734C>T (p.Asp578=)
NM_022166.4(XYLT1):c.1764+13C>T
NM_022166.4(XYLT1):c.1764+9_1764+10dup
NM_022166.4(XYLT1):c.1765-14T>A
NM_022166.4(XYLT1):c.1765-15A>C
NM_022166.4(XYLT1):c.1765-8G>A
NM_022166.4(XYLT1):c.1793G>A (p.Arg598His)
NM_022166.4(XYLT1):c.1806C>T (p.Ala602=)
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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