ClinVar Miner

List of variants in gene XYLT1 reported as uncertain significance for Desbuquois dysplasia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val) rs568899945 0.00191
NM_022166.4(XYLT1):c.2502G>C (p.Glu834Asp) rs145244421 0.00051
NM_022166.4(XYLT1):c.188C>G (p.Pro63Arg) rs1028782929 0.00047
NM_022166.4(XYLT1):c.2338G>A (p.Val780Met) rs181524912 0.00044
NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg) rs147284278 0.00030
NM_022166.4(XYLT1):c.1358G>A (p.Arg453Gln) rs141079587 0.00023
NM_022166.4(XYLT1):c.694G>C (p.Asp232His) rs150214300 0.00021
NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile) rs574064641 0.00013
NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu) rs139070566 0.00011
NM_022166.4(XYLT1):c.173C>T (p.Pro58Leu) rs984714850 0.00010
NM_022166.4(XYLT1):c.731G>C (p.Gly244Ala) rs199643996 0.00010
NM_022166.4(XYLT1):c.287G>C (p.Arg96Pro) rs1037051580 0.00009
NM_022166.4(XYLT1):c.41C>T (p.Ser14Leu) rs558470371 0.00009
NM_022166.4(XYLT1):c.2344G>A (p.Val782Ile) rs778581218 0.00008
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg) rs760732431 0.00007
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu) rs140976278 0.00007
NM_022166.4(XYLT1):c.2809G>A (p.Ala937Thr) rs780303292 0.00006
NM_022166.4(XYLT1):c.358G>A (p.Ala120Thr) rs769122570 0.00006
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp) rs201009902 0.00005
NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln) rs765703210 0.00005
NM_022166.4(XYLT1):c.2504C>T (p.Thr835Ile) rs372741635 0.00004
NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr) rs183356442 0.00004
NM_022166.4(XYLT1):c.1211G>A (p.Ser404Asn) rs146025263 0.00003
NM_022166.4(XYLT1):c.1370+5C>T rs372104324 0.00003
NM_022166.4(XYLT1):c.262G>A (p.Gly88Arg) rs1251643007 0.00003
NM_022166.4(XYLT1):c.2693C>T (p.Thr898Met) rs368097793 0.00003
NM_022166.4(XYLT1):c.2783C>T (p.Pro928Leu) rs909102121 0.00003
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) rs768752782 0.00003
NM_022166.4(XYLT1):c.670G>A (p.Ala224Thr) rs534156689 0.00003
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) rs1457612277 0.00002
NM_022166.4(XYLT1):c.1237G>A (p.Asp413Asn) rs774302454 0.00002
NM_022166.4(XYLT1):c.1259T>C (p.Ile420Thr) rs747349926 0.00002
NM_022166.4(XYLT1):c.1445G>A (p.Arg482Gln) rs571451998 0.00002
NM_022166.4(XYLT1):c.179C>T (p.Ala60Val) rs1294077633 0.00002
NM_022166.4(XYLT1):c.2117A>G (p.Asn706Ser) rs779078093 0.00002
NM_022166.4(XYLT1):c.2378C>T (p.Ala793Val) rs369216955 0.00002
NM_022166.4(XYLT1):c.2669A>G (p.Gln890Arg) rs1321384222 0.00002
NM_022166.4(XYLT1):c.2690C>T (p.Ser897Phe) rs776112557 0.00002
NM_022166.4(XYLT1):c.389C>T (p.Thr130Ile) rs374229842 0.00002
NM_022166.4(XYLT1):c.1006G>A (p.Gly336Ser) rs748903122 0.00001
NM_022166.4(XYLT1):c.1086+4A>G rs368086323 0.00001
NM_022166.4(XYLT1):c.1088G>A (p.Arg363His) rs750025305 0.00001
NM_022166.4(XYLT1):c.1129C>G (p.Gln377Glu) rs530487081 0.00001
NM_022166.4(XYLT1):c.1229A>T (p.Glu410Val) rs759418934 0.00001
NM_022166.4(XYLT1):c.1276G>A (p.Asp426Asn) rs1193112792 0.00001
NM_022166.4(XYLT1):c.1310C>T (p.Ala437Val) rs192917273 0.00001
NM_022166.4(XYLT1):c.1474G>A (p.Gly492Ser) rs1395692976 0.00001
NM_022166.4(XYLT1):c.1547A>G (p.Lys516Arg) rs200026293 0.00001
NM_022166.4(XYLT1):c.182C>G (p.Pro61Arg) rs953238937 0.00001
NM_022166.4(XYLT1):c.18C>G (p.Cys6Trp) rs1028730751 0.00001
NM_022166.4(XYLT1):c.2088G>T (p.Gln696His) rs1459705274 0.00001
NM_022166.4(XYLT1):c.2129G>A (p.Ser710Asn) rs1174079303 0.00001
NM_022166.4(XYLT1):c.2223+6A>C rs757535848 0.00001
NM_022166.4(XYLT1):c.2260C>T (p.Arg754Cys) rs374020411 0.00001
NM_022166.4(XYLT1):c.2465C>G (p.Thr822Arg) rs781285104 0.00001
NM_022166.4(XYLT1):c.2467G>A (p.Val823Met) rs767395762 0.00001
NM_022166.4(XYLT1):c.2619G>C (p.Gln873His) rs1378456649 0.00001
NM_022166.4(XYLT1):c.2665G>C (p.Glu889Gln) rs752844900 0.00001
NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser) rs1348422483 0.00001
NM_022166.4(XYLT1):c.353C>T (p.Ala118Val) rs1229787594 0.00001
NM_022166.4(XYLT1):c.359C>T (p.Ala120Val) rs1187139126 0.00001
NM_022166.4(XYLT1):c.47C>T (p.Ser16Leu) rs1052524950 0.00001
NM_022166.4(XYLT1):c.617A>G (p.His206Arg) rs1422772803 0.00001
NM_022166.4(XYLT1):c.689G>A (p.Gly230Glu) rs746038429 0.00001
NM_022166.4(XYLT1):c.746C>A (p.Thr249Asn) rs761858019 0.00001
NM_022166.4(XYLT1):c.848C>G (p.Thr283Ser) rs763286849 0.00001
NM_022166.4(XYLT1):c.88C>G (p.Leu30Val) rs948173236 0.00001
NM_022166.4(XYLT1):c.94G>A (p.Val32Met) rs1301420949 0.00001
NC_000016.9:g.(?_17202552)_(17451927_?)dup
NC_000016.9:g.(?_17451859)_(17451917_?)del
NM_022166.4(XYLT1):c.1028A>G (p.Gln343Arg)
NM_022166.4(XYLT1):c.1033A>C (p.Met345Leu)
NM_022166.4(XYLT1):c.1100T>A (p.Leu367Gln)
NM_022166.4(XYLT1):c.1145G>A (p.Arg382His)
NM_022166.4(XYLT1):c.121G>C (p.Gly41Arg)
NM_022166.4(XYLT1):c.1271C>T (p.Ala424Val)
NM_022166.4(XYLT1):c.130G>A (p.Glu44Lys) rs2141970457
NM_022166.4(XYLT1):c.1322G>A (p.Arg441Gln)
NM_022166.4(XYLT1):c.1416C>G (p.Asp472Glu) rs371420301
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys) rs1180844430
NM_022166.4(XYLT1):c.143G>T (p.Gly48Val)
NM_022166.4(XYLT1):c.1478C>T (p.Ser493Leu)
NM_022166.4(XYLT1):c.1520C>A (p.Thr507Asn) rs1290402731
NM_022166.4(XYLT1):c.152T>C (p.Val51Ala) rs865812042
NM_022166.4(XYLT1):c.1534G>T (p.Asp512Tyr) rs561119865
NM_022166.4(XYLT1):c.161G>A (p.Gly54Glu) rs2036977208
NM_022166.4(XYLT1):c.176C>A (p.Pro59Gln)
NM_022166.4(XYLT1):c.178G>A (p.Ala60Thr)
NM_022166.4(XYLT1):c.178GCCCCG[3] (p.60AP[3]) rs965735566
NM_022166.4(XYLT1):c.197A>T (p.Glu66Val)
NM_022166.4(XYLT1):c.200_208dup (p.Arg67_Asp69dup) rs2036975094
NM_022166.4(XYLT1):c.2027G>A (p.Arg676Gln)
NM_022166.4(XYLT1):c.2038A>G (p.Met680Val)
NM_022166.4(XYLT1):c.2047C>A (p.Pro683Thr)
NM_022166.4(XYLT1):c.2050G>A (p.Ala684Thr)
NM_022166.4(XYLT1):c.2069T>C (p.Phe690Ser) rs2141496310
NM_022166.4(XYLT1):c.2071C>G (p.Leu691Val)
NM_022166.4(XYLT1):c.2080C>T (p.Arg694Cys)
NM_022166.4(XYLT1):c.2098A>G (p.Ile700Val)
NM_022166.4(XYLT1):c.2105A>T (p.His702Leu)
NM_022166.4(XYLT1):c.2159T>C (p.Met720Thr)
NM_022166.4(XYLT1):c.2162C>A (p.Pro721Gln) rs767151460
NM_022166.4(XYLT1):c.2169A>T (p.Lys723Asn)
NM_022166.4(XYLT1):c.2192C>G (p.Pro731Arg)
NM_022166.4(XYLT1):c.2209C>A (p.Leu737Ile) rs1388039038
NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys)
NM_022166.4(XYLT1):c.2272G>C (p.Gly758Arg)
NM_022166.4(XYLT1):c.22C>G (p.Arg8Gly)
NM_022166.4(XYLT1):c.2306T>C (p.Met769Thr) rs2029899993
NM_022166.4(XYLT1):c.2417C>A (p.Thr806Lys) rs1338243795
NM_022166.4(XYLT1):c.2425A>G (p.Lys809Glu)
NM_022166.4(XYLT1):c.249_269del (p.Gly84_Gly90del)
NM_022166.4(XYLT1):c.2519C>A (p.Ala840Glu)
NM_022166.4(XYLT1):c.2545C>T (p.Pro849Ser)
NM_022166.4(XYLT1):c.2549T>C (p.Ile850Thr)
NM_022166.4(XYLT1):c.2557G>C (p.Glu853Gln) rs200659049
NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys) rs769391314
NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met)
NM_022166.4(XYLT1):c.256GGA[7] (p.Gly89_Gly90dup) rs748140156
NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile)
NM_022166.4(XYLT1):c.2639G>C (p.Ser880Thr)
NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp)
NM_022166.4(XYLT1):c.2725_2727del (p.Leu909del)
NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile)
NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp)
NM_022166.4(XYLT1):c.279_284del (p.Gln94_Ala95del) rs1210050000
NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser)
NM_022166.4(XYLT1):c.2869C>T (p.Arg957Trp)
NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln)
NM_022166.4(XYLT1):c.293G>T (p.Arg98Leu) rs1800826564
NM_022166.4(XYLT1):c.317G>A (p.Arg106Gln) rs1438453537
NM_022166.4(XYLT1):c.317G>C (p.Arg106Pro) rs1438453537
NM_022166.4(XYLT1):c.337C>T (p.Arg113Trp) rs2036970942
NM_022166.4(XYLT1):c.346C>G (p.Leu116Val) rs2036970723
NM_022166.4(XYLT1):c.45C>G (p.His15Gln)
NM_022166.4(XYLT1):c.4G>A (p.Val2Met) rs1567216029
NM_022166.4(XYLT1):c.71TGC[5] (p.Leu27_Gln28insLeu)
NM_022166.4(XYLT1):c.742G>A (p.Glu248Lys) rs765052371
NM_022166.4(XYLT1):c.809G>A (p.Arg270His)
NM_022166.4(XYLT1):c.829C>T (p.Arg277Cys)
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu) rs751753807
NM_022166.4(XYLT1):c.863A>G (p.Lys288Arg)
NM_022166.4(XYLT1):c.899T>C (p.Phe300Ser) rs2141757551
NM_022166.4(XYLT1):c.907C>G (p.Leu303Val)
NM_022166.4(XYLT1):c.914-9T>A rs1244804362
NM_022166.4(XYLT1):c.923A>C (p.Asn308Thr) rs2141589656
NM_022166.4(XYLT1):c.927G>C (p.Lys309Asn) rs1368460695
NM_022166.4(XYLT1):c.952G>A (p.Val318Met)
NM_022166.4(XYLT1):c.958T>C (p.Tyr320His)
NM_022166.4(XYLT1):c.962T>G (p.Met321Arg)

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