ClinVar Miner

List of variants in gene combination LOC102723692, XYLT1 reported as likely benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=) rs139802880 0.00091
NM_022166.4(XYLT1):c.1765-3C>T rs192023037 0.00065
NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys) rs137935662 0.00062
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) rs146414934 0.00061
NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=) rs139156211 0.00043
NM_022166.4(XYLT1):c.1588-15C>G rs373631554 0.00030
NM_022166.4(XYLT1):c.1917C>T (p.Asp639=) rs769324855 0.00012
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=) rs138560456 0.00011
NM_022166.4(XYLT1):c.1686G>A (p.Lys562=) rs143303539 0.00008
NM_022166.4(XYLT1):c.1629C>T (p.Asp543=) rs772951019 0.00006
NM_022166.4(XYLT1):c.1716C>T (p.Cys572=) rs765001631 0.00005
NM_022166.4(XYLT1):c.1953G>A (p.Leu651=) rs759912114 0.00004
NM_022166.4(XYLT1):c.1659C>T (p.Thr553=) rs771027871 0.00003
NM_022166.4(XYLT1):c.1764+11C>G rs188563835 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.1588-9C>T rs772084738 0.00001
NM_022166.4(XYLT1):c.1638G>A (p.Val546=) rs2030849015 0.00001
NM_022166.4(XYLT1):c.1764+13C>T rs753517047 0.00001
NM_022166.4(XYLT1):c.1764+19C>T rs915382546 0.00001
NM_022166.4(XYLT1):c.1806C>T (p.Ala602=) rs765295954 0.00001
NM_022166.4(XYLT1):c.1875G>A (p.Pro625=) rs182016158 0.00001
NM_022166.4(XYLT1):c.1995G>A (p.Thr665=) rs779046536 0.00001
NM_022166.4(XYLT1):c.1588-35_1588-19del rs762567877
NM_022166.4(XYLT1):c.1588-6C>T
NM_022166.4(XYLT1):c.1588-9C>A rs772084738
NM_022166.4(XYLT1):c.1606C>T (p.Leu536=) rs2506178950
NM_022166.4(XYLT1):c.1617C>T (p.Ser539=)
NM_022166.4(XYLT1):c.1677G>A (p.Leu559=) rs772373605
NM_022166.4(XYLT1):c.1734C>T (p.Asp578=) rs376245484
NM_022166.4(XYLT1):c.1764+9_1764+10dup rs770726735
NM_022166.4(XYLT1):c.1765-14T>A rs2506171291
NM_022166.4(XYLT1):c.1765-15A>C rs772678231
NM_022166.4(XYLT1):c.1765-4A>G
NM_022166.4(XYLT1):c.1887C>T (p.Ser629=)
NM_022166.4(XYLT1):c.1911G>A (p.Glu637=)
NM_022166.4(XYLT1):c.1944A>G (p.Thr648=)

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