ClinVar Miner

List of variants in gene LOC130058566, XYLT1 studied for bone disorder

Included ClinVar conditions (1436):
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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) rs74993523 0.00252
NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu) rs143159780 0.00042
NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln) rs150531859 0.00015
NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile) rs772544986 0.00015
NM_022166.4(XYLT1):c.546G>A (p.Ala182=) rs144423897 0.00015
NM_022166.4(XYLT1):c.541T>C (p.Leu181=) rs148434592 0.00007
NM_022166.4(XYLT1):c.534G>T (p.Gln178His) rs142578304 0.00004
NM_022166.4(XYLT1):c.434A>C (p.Lys145Thr) rs760513040 0.00003
NM_022166.4(XYLT1):c.558G>A (p.Pro186=) rs538937903 0.00003
NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn) rs779556597 0.00003
NM_022166.4(XYLT1):c.403-18C>T rs767635029 0.00001
NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu) rs2033690309 0.00001
NM_022166.4(XYLT1):c.416C>T (p.Ser139Phe) rs1251084213 0.00001
NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln) rs761442565 0.00001
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) rs587777368 0.00001
NM_022166.4(XYLT1):c.504C>T (p.Phe168=) rs1279570396 0.00001
NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser) rs1284737489 0.00001
NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu) rs771721270 0.00001
NM_022166.4(XYLT1):c.537T>C (p.Pro179=) rs781173341 0.00001
NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg) rs757877161 0.00001
NM_022166.4(XYLT1):c.403-9C>G
NM_022166.4(XYLT1):c.436G>A (p.Val146Met) rs2033689677
NM_022166.4(XYLT1):c.456C>T (p.Asn152=)
NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala) rs2506675921
NM_022166.4(XYLT1):c.557C>G (p.Pro186Arg)
NM_022166.4(XYLT1):c.570G>A (p.Lys190=) rs2506675653
NM_022166.4(XYLT1):c.578del (p.Leu192_Leu193insTer) rs2033685902

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