ClinVar Miner

List of variants in gene XYLT2 studied for bone development disease

Included ClinVar conditions (618):
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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_022167.4(XYLT2):c.1569T>C (p.Tyr523=) rs4794136 0.47479
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649 0.33080
NM_022167.4(XYLT2):c.177G>A (p.Glu59=) rs739990 0.18425
NM_022167.4(XYLT2):c.342C>T (p.Pro114=) rs739989 0.18425
NM_022167.4(XYLT2):c.30G>T (p.Leu10=) rs9912503 0.04702
NM_022167.4(XYLT2):c.1253C>T (p.Pro418Leu) rs72832454 0.02135
NM_022167.4(XYLT2):c.1845G>C (p.Gln615His) rs60712738 0.01931
NM_022167.4(XYLT2):c.166G>A (p.Asp56Asn) rs113835371 0.01034
NM_022167.4(XYLT2):c.1089-9T>C rs193124050 0.00832
NM_022167.4(XYLT2):c.359G>A (p.Arg120His) rs145954495 0.00528
NM_022167.4(XYLT2):c.1619C>T (p.Thr540Ile) rs151294421 0.00366
NM_022167.4(XYLT2):c.922C>T (p.Leu308=) rs138789012 0.00352
NM_022167.4(XYLT2):c.1938G>A (p.Leu646=) rs3803883 0.00250
NM_022167.4(XYLT2):c.2463C>T (p.Ser821=) rs147148985 0.00224
NM_022167.4(XYLT2):c.2391C>T (p.Ala797=) rs141527159 0.00081
NM_022167.4(XYLT2):c.1708G>A (p.Ala570Thr) rs199816555 0.00024
NM_022167.4(XYLT2):c.1998G>A (p.Leu666=) rs140443495 0.00016
NM_022167.4(XYLT2):c.811G>A (p.Asp271Asn) rs138933160 0.00013
NM_022167.4(XYLT2):c.1923C>T (p.Ser641=) rs778642140 0.00012
NM_022167.4(XYLT2):c.493G>A (p.Val165Met) rs201070818 0.00009
NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser) rs199705453 0.00004
NM_022167.4(XYLT2):c.1623C>T (p.Tyr541=) rs750349082 0.00003
NM_022167.4(XYLT2):c.2420C>T (p.Ala807Val) rs565634363 0.00003
NM_022167.4(XYLT2):c.859G>A (p.Val287Met) rs200767788 0.00003
NM_022167.4(XYLT2):c.344C>T (p.Pro115Leu) rs748114111 0.00002
NM_022167.4(XYLT2):c.660G>C (p.Glu220Asp) rs571962145 0.00002
NM_022167.4(XYLT2):c.1328A>G (p.Glu443Gly) rs150726624 0.00001
NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn) rs1423415130 0.00001
NM_022167.4(XYLT2):c.2583_2584insTCA (p.Asp861_Gly862insSer) rs1160371350 0.00001
NM_022167.4(XYLT2):c.749G>A (p.Arg250His) rs1454779962 0.00001
NM_022167.4(XYLT2):c.1552del (p.Leu518fs) rs1912543391
NM_022167.4(XYLT2):c.1581C>A (p.Pro527=) rs377456488
NM_022167.4(XYLT2):c.1584del (p.Gly529fs)
NM_022167.4(XYLT2):c.1584dup (p.Gly529fs) rs779864368
NM_022167.4(XYLT2):c.1985T>C (p.Phe662Ser) rs762379910
NM_022167.4(XYLT2):c.2023G>A (p.Val675Met) rs147831067
NM_022167.4(XYLT2):c.239G>T (p.Arg80Leu) rs371420967
NM_022167.4(XYLT2):c.2443G>T (p.Glu815Ter)
NM_022167.4(XYLT2):c.2585_2586insTAGCAGGCGACTCAG (p.Gly862_Arg863insSerArgArgLeuArg) rs1567809273
NM_022167.4(XYLT2):c.520del (p.Ala174fs) rs797044807
NM_022167.4(XYLT2):c.692dup (p.Val232fs) rs797044806
NM_022167.4(XYLT2):c.914G>C (p.Arg305Thr) rs12451299
NM_022167.4(XYLT2):c.914G>T (p.Arg305Met) rs12451299

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