ClinVar Miner

List of variants in gene XYLT1 studied for Desbuquois dysplasia 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln) rs35309694 0.09774
NM_022166.4(XYLT1):c.2655C>T (p.Pro885=) rs924260 0.07855
NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile) rs7200466 0.06145
NM_022166.4(XYLT1):c.2224-12C>T rs12325442 0.06125
NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly) rs113276942 0.04995
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388 0.01927
NM_022166.4(XYLT1):c.1077C>T (p.His359=) rs35488326 0.01851
NM_022166.4(XYLT1):c.913+9C>T rs79173410 0.01688
NM_022166.4(XYLT1):c.606A>G (p.Lys202=) rs114030556 0.00708
NM_022166.4(XYLT1):c.2370C>A (p.Val790=) rs74750647 0.00372
NM_022166.4(XYLT1):c.2226C>T (p.Val742=) rs139693964 0.00304
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) rs36098987 0.00293
NM_022166.4(XYLT1):c.363+18C>G rs367589791 0.00225
NM_022166.4(XYLT1):c.2028-15C>T rs150179077 0.00203
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val) rs568899945 0.00191
NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg) rs370511358 0.00139
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser) rs766521030 0.00093
NM_022166.4(XYLT1):c.402+6T>C rs184623992 0.00092
NM_022166.4(XYLT1):c.57C>T (p.Leu19=) rs539729561 0.00083
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=) rs150492983 0.00067
NM_022166.4(XYLT1):c.1299C>A (p.Asp433Glu) rs147074504 0.00057
NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala) rs12325439 0.00051
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.1272G>A (p.Ala424=) rs144531370 0.00031
NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg) rs147284278 0.00030
NM_022166.4(XYLT1):c.2557+16G>T rs201594594 0.00029
NM_022166.4(XYLT1):c.2694G>A (p.Thr898=) rs141353269 0.00026
NM_022166.4(XYLT1):c.657C>T (p.Pro219=) rs146043560 0.00026
NM_022166.4(XYLT1):c.2358T>C (p.Asp786=) rs145615486 0.00024
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.1227G>A (p.Leu409=) rs142693909 0.00019
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser) rs143481827 0.00019
NM_022166.4(XYLT1):c.951C>T (p.Ser317=) rs145318002 0.00017
NM_022166.4(XYLT1):c.1087-18T>C rs377281740 0.00016
NM_022166.4(XYLT1):c.1413C>T (p.Cys471=) rs372067770 0.00016
NM_022166.4(XYLT1):c.246A>C (p.Gly82=) rs1324469444 0.00016
NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile) rs574064641 0.00013
NM_022166.4(XYLT1):c.2081G>A (p.Arg694His) rs201045664 0.00013
NM_022166.4(XYLT1):c.1311G>A (p.Ala437=) rs201354548 0.00012
NM_022166.4(XYLT1):c.1044C>T (p.Ala348=) rs372015293 0.00011
NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu) rs139070566 0.00011
NM_022166.4(XYLT1):c.1289+13A>G rs759329282 0.00010
NM_022166.4(XYLT1):c.173C>T (p.Pro58Leu) rs984714850 0.00010
NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala) rs199588257 0.00010
NM_022166.4(XYLT1):c.364-6C>T rs374328092 0.00010
NM_022166.4(XYLT1):c.731G>C (p.Gly244Ala) rs199643996 0.00010
NM_022166.4(XYLT1):c.2224-9_2224-8del rs765782913 0.00009
NM_022166.4(XYLT1):c.258A>C (p.Gly86=) rs1354379384 0.00009
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.126C>T (p.Ala42=) rs1359623297 0.00007
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg) rs760732431 0.00007
NM_022166.4(XYLT1):c.2430C>T (p.Pro810=) rs550125219 0.00007
NM_022166.4(XYLT1):c.2784G>A (p.Pro928=) rs150334363 0.00007
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu) rs140976278 0.00007
NM_022166.4(XYLT1):c.1032C>T (p.Arg344=) rs753990263 0.00006
NM_022166.4(XYLT1):c.2442G>T (p.Leu814Phe) rs199727985 0.00006
NM_022166.4(XYLT1):c.2520G>A (p.Ala840=) rs374874388 0.00006
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.711T>A (p.Pro237=) rs148118242 0.00004
NM_022166.4(XYLT1):c.735C>T (p.Ser245=) rs143634894 0.00004
NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr) rs183356442 0.00004
NM_022166.4(XYLT1):c.930C>T (p.Asn310=) rs372400180 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.1533C>T (p.Asp511=) rs760198193 0.00003
NM_022166.4(XYLT1):c.2004C>T (p.His668=) rs568660663 0.00003
NM_022166.4(XYLT1):c.2028-14G>A rs762165484 0.00003
NM_022166.4(XYLT1):c.2163G>A (p.Pro721=) rs759198989 0.00003
NM_022166.4(XYLT1):c.2298G>A (p.Pro766=) rs146457574 0.00003
NM_022166.4(XYLT1):c.262G>A (p.Gly88Arg) rs1251643007 0.00003
NM_022166.4(XYLT1):c.264A>T (p.Gly88=) rs1056637053 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.1140T>C (p.Asn380=) rs1041058225 0.00002
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.2223+10C>T rs750355184 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.708G>A (p.Pro236=) rs570061438 0.00002
NM_022166.4(XYLT1):c.93C>T (p.Val31=) rs1347219754 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.1191C>G (p.Leu397=) rs372491262 0.00001
NM_022166.4(XYLT1):c.1225C>T (p.Leu409=) rs1236568384 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.1290-6C>T rs1019625581 0.00001
NM_022166.4(XYLT1):c.1310C>T (p.Ala437Val) rs192917273 0.00001
NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter) rs1164720535 0.00001
NM_022166.4(XYLT1):c.1353C>T (p.His451=) rs200531572 0.00001
NM_022166.4(XYLT1):c.1371-5C>T rs779582063 0.00001
NM_022166.4(XYLT1):c.1474G>A (p.Gly492Ser) rs1395692976 0.00001
NM_022166.4(XYLT1):c.1479G>A (p.Ser493=) rs758599112 0.00001
NM_022166.4(XYLT1):c.153C>T (p.Val51=) rs1359545259 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.213C>T (p.Pro71=) rs999574381 0.00001
NM_022166.4(XYLT1):c.2223+6A>C rs757535848 0.00001
NM_022166.4(XYLT1):c.2224-7G>C rs2029906214 0.00001
NM_022166.4(XYLT1):c.2260C>T (p.Arg754Cys) rs374020411 0.00001
NM_022166.4(XYLT1):c.2337C>A (p.Thr779=) rs779548774 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.2766G>C (p.Thr922=) rs371058087 0.00001
NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser) rs1348422483 0.00001
NM_022166.4(XYLT1):c.2865T>C (p.Asp955=) rs1444261356 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.402+15T>C rs937484990 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.624C>T (p.Phe208=) rs372923585 0.00001
NM_022166.4(XYLT1):c.689G>A (p.Gly230Glu) rs746038429 0.00001
NM_022166.4(XYLT1):c.72G>C (p.Val24=) rs753722258 0.00001
NM_022166.4(XYLT1):c.746C>A (p.Thr249Asn) rs761858019 0.00001
NM_022166.4(XYLT1):c.750G>A (p.Lys250=) rs767664625 0.00001
NM_022166.4(XYLT1):c.807C>T (p.Ser269=) rs779671035 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.914-18C>A rs149428198 0.00001
NM_022166.4(XYLT1):c.94G>A (p.Val32Met) rs1301420949 0.00001
NM_022166.4(XYLT1):c.984C>T (p.Ile328=) rs776003531 0.00001
NC_000016.9:g.(?_17202552)_(17451927_?)dup
NC_000016.9:g.(?_17451859)_(17451917_?)del
NC_000016.9:g.(?_17564281)_(17564653_?)del
NM_022166.4(XYLT1):c.-110_280del (p.Met1_Gln94del)
NM_022166.4(XYLT1):c.1008C>T (p.Gly336=)
NM_022166.4(XYLT1):c.1011T>A (p.Arg337=)
NM_022166.4(XYLT1):c.1028A>G (p.Gln343Arg)
NM_022166.4(XYLT1):c.1033A>C (p.Met345Leu)
NM_022166.4(XYLT1):c.1074C>A (p.Ile358=)
NM_022166.4(XYLT1):c.1086+9C>G
NM_022166.4(XYLT1):c.1087-14_1087-11del rs1449577336
NM_022166.4(XYLT1):c.1100T>A (p.Leu367Gln)
NM_022166.4(XYLT1):c.1145G>A (p.Arg382His)
NM_022166.4(XYLT1):c.114C>G (p.Leu38=) rs1367326593
NM_022166.4(XYLT1):c.1218G>A (p.Arg406=)
NM_022166.4(XYLT1):c.121G>C (p.Gly41Arg)
NM_022166.4(XYLT1):c.1221C>T (p.Asp407=)
NM_022166.4(XYLT1):c.1224C>T (p.Leu408=)
NM_022166.4(XYLT1):c.1236C>T (p.Thr412=)
NM_022166.4(XYLT1):c.1271C>T (p.Ala424Val)
NM_022166.4(XYLT1):c.1272G>T (p.Ala424=)
NM_022166.4(XYLT1):c.1275C>T (p.Ala425=)
NM_022166.4(XYLT1):c.1284C>A (p.Pro428=)
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=) rs28709752
NM_022166.4(XYLT1):c.130G>A (p.Glu44Lys) rs2141970457
NM_022166.4(XYLT1):c.1322G>A (p.Arg441Gln)
NM_022166.4(XYLT1):c.1371-15C>G
NM_022166.4(XYLT1):c.1371-8C>T
NM_022166.4(XYLT1):c.1416C>G (p.Asp472Glu) rs371420301
NM_022166.4(XYLT1):c.1416C>T (p.Asp472=) 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.1464C>T (p.Ala488=)
NM_022166.4(XYLT1):c.1478C>T (p.Ser493Leu)
NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter)
NM_022166.4(XYLT1):c.1518G>A (p.Val506=) rs1256776514
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.1530A>G (p.Thr510=)
NM_022166.4(XYLT1):c.1534G>T (p.Asp512Tyr) rs561119865
NM_022166.4(XYLT1):c.1587+8T>A
NM_022166.4(XYLT1):c.15G>T (p.Pro5=)
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.183G>A (p.Pro61=)
NM_022166.4(XYLT1):c.195G>C (p.Arg65=)
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.2026C>T (p.Arg676Ter)
NM_022166.4(XYLT1):c.2027+20C>T
NM_022166.4(XYLT1):c.2027G>A (p.Arg676Gln)
NM_022166.4(XYLT1):c.2028-16G>C
NM_022166.4(XYLT1):c.2028-16dup
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.2127G>C (p.Val709=) rs1597137187
NM_022166.4(XYLT1):c.2145G>A (p.Leu715=)
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.2181C>T (p.Ile727=)
NM_022166.4(XYLT1):c.2192C>G (p.Pro731Arg)
NM_022166.4(XYLT1):c.2209C>A (p.Leu737Ile) rs1388039038
NM_022166.4(XYLT1):c.2220C>T (p.Ser740=)
NM_022166.4(XYLT1):c.2223+11A>G
NM_022166.4(XYLT1):c.2223+12G>C
NM_022166.4(XYLT1):c.2223+17T>A
NM_022166.4(XYLT1):c.2224-4T>A rs749488472
NM_022166.4(XYLT1):c.2224-4T>C
NM_022166.4(XYLT1):c.2272G>C (p.Gly758Arg)
NM_022166.4(XYLT1):c.228A>G (p.Ala76=) rs904119368
NM_022166.4(XYLT1):c.228A>T (p.Ala76=)
NM_022166.4(XYLT1):c.22C>G (p.Arg8Gly)
NM_022166.4(XYLT1):c.2306T>C (p.Met769Thr) rs2029899993
NM_022166.4(XYLT1):c.2319G>A (p.Gly773=)
NM_022166.4(XYLT1):c.2322G>A (p.Lys774=)
NM_022166.4(XYLT1):c.2331T>C (p.Asn777=) rs7201590
NM_022166.4(XYLT1):c.2337C>T (p.Thr779=)
NM_022166.4(XYLT1):c.234AGG[6] (p.Gly90dup) rs559215248
NM_022166.4(XYLT1):c.2385C>T (p.Tyr795=)
NM_022166.4(XYLT1):c.2409C>T (p.Ala803=)
NM_022166.4(XYLT1):c.2417C>A (p.Thr806Lys) rs1338243795
NM_022166.4(XYLT1):c.2418A>G (p.Thr806=)
NM_022166.4(XYLT1):c.2421C>T (p.His807=)
NM_022166.4(XYLT1):c.2424C>T (p.Tyr808=)
NM_022166.4(XYLT1):c.2425A>G (p.Lys809Glu)
NM_022166.4(XYLT1):c.2457G>T (p.Gly819=) rs2141484223
NM_022166.4(XYLT1):c.2462G>A (p.Trp821Ter)
NM_022166.4(XYLT1):c.2466A>G (p.Thr822=) rs2141484206
NM_022166.4(XYLT1):c.2481C>T (p.His827=)
NM_022166.4(XYLT1):c.249_269del (p.Gly84_Gly90del)
NM_022166.4(XYLT1):c.2519C>A (p.Ala840Glu)
NM_022166.4(XYLT1):c.2535G>C (p.Ser845=) rs746392043
NM_022166.4(XYLT1):c.2545C>T (p.Pro849Ser)
NM_022166.4(XYLT1):c.2549T>C (p.Ile850Thr)
NM_022166.4(XYLT1):c.2557+20A>G
NM_022166.4(XYLT1):c.2557+8C>A
NM_022166.4(XYLT1):c.2557G>C (p.Glu853Gln) rs200659049
NM_022166.4(XYLT1):c.2558-18G>A rs564847916
NM_022166.4(XYLT1):c.2558-6T>C
NM_022166.4(XYLT1):c.255C>A (p.Gly85=) rs1414998054
NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys) rs769391314
NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met)
NM_022166.4(XYLT1):c.2566C>T (p.Leu856=)
NM_022166.4(XYLT1):c.256GGA[7] (p.Gly89_Gly90dup) rs748140156
NM_022166.4(XYLT1):c.2607G>A (p.Glu869=)
NM_022166.4(XYLT1):c.2631C>T (p.Pro877=) rs34511974
NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile)
NM_022166.4(XYLT1):c.2639G>C (p.Ser880Thr)
NM_022166.4(XYLT1):c.2640C>T (p.Ser880=)
NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp)
NM_022166.4(XYLT1):c.2682C>T (p.Asn894=)
NM_022166.4(XYLT1):c.2703G>A (p.Ala901=)
NM_022166.4(XYLT1):c.2725_2727del (p.Leu909del)
NM_022166.4(XYLT1):c.2733C>A (p.Gly911=)
NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile)
NM_022166.4(XYLT1):c.2766G>A (p.Thr922=) rs371058087
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.2808G>A (p.Thr936=)
NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser)
NM_022166.4(XYLT1):c.282G>A (p.Gln94=)
NM_022166.4(XYLT1):c.2856C>T (p.Val952=)
NM_022166.4(XYLT1):c.2869C>T (p.Arg957Trp)
NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln)
NM_022166.4(XYLT1):c.28C>T (p.Leu10=)
NM_022166.4(XYLT1):c.293G>T (p.Arg98Leu) rs1800826564
NM_022166.4(XYLT1):c.306C>T (p.Pro102=) rs763158776
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.351C>T (p.Pro117=)
NM_022166.4(XYLT1):c.357G>A (p.Arg119=) rs777120741
NM_022166.4(XYLT1):c.364-9A>G
NM_022166.4(XYLT1):c.366T>C (p.Asp122=)
NM_022166.4(XYLT1):c.402+18C>G rs111904908
NM_022166.4(XYLT1):c.402+18C>T rs111904908
NM_022166.4(XYLT1):c.45C>G (p.His15Gln)
NM_022166.4(XYLT1):c.4G>A (p.Val2Met) rs1567216029
NM_022166.4(XYLT1):c.60G>C (p.Ala20=)
NM_022166.4(XYLT1):c.615A>G (p.Gly205=) rs762851973
NM_022166.4(XYLT1):c.630G>A (p.Gly210=)
NM_022166.4(XYLT1):c.649C>T (p.Leu217=)
NM_022166.4(XYLT1):c.693G>A (p.Lys231=)
NM_022166.4(XYLT1):c.69G>A (p.Thr23=)
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.822G>A (p.Lys274=)
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.888G>A (p.Lys296=)
NM_022166.4(XYLT1):c.899T>C (p.Phe300Ser) rs2141757551
NM_022166.4(XYLT1):c.906C>T (p.Pro302=)
NM_022166.4(XYLT1):c.907C>G (p.Leu303Val)
NM_022166.4(XYLT1):c.913+15C>T
NM_022166.4(XYLT1):c.913+15del rs2141757493
NM_022166.4(XYLT1):c.913+16G>C rs540575525
NM_022166.4(XYLT1):c.914-12G>T
NM_022166.4(XYLT1):c.914-16C>G
NM_022166.4(XYLT1):c.914-8T>A rs2141589675
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>A (p.Lys309=) rs1368460695
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.975G>A (p.Pro325=)
NM_022166.4(XYLT1):c.981A>G (p.Arg327=)
NM_022166.4(XYLT1):c.987C>T (p.Ala329=) rs2032521829
NM_022166.4(XYLT1):c.9G>A (p.Ala3=)

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