ClinVar Miner

List of variants reported as uncertain significance for Desbuquois dysplasia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_001159773.2(CANT1):c.*1167G>A rs186436891 0.00916
NM_001159773.2(CANT1):c.-202A>C rs377716176 0.00358
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val) rs568899945 0.00191
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_001159773.2(CANT1):c.*89G>A rs146866436 0.00123
NM_001159773.2(CANT1):c.-233C>T rs886053533 0.00106
NM_001159773.2(CANT1):c.*1412A>G rs190318927 0.00086
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.425C>T (p.Pro142Leu) rs143159780 0.00043
NM_022166.4(XYLT1):c.1764+3G>A rs147978944 0.00033
NM_001159773.2(CANT1):c.147C>T (p.Phe49=) rs371500993 0.00031
NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg) rs147284278 0.00030
NM_001159773.2(CANT1):c.-22-34C>G rs886053528 0.00029
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) rs140112462 0.00029
NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met) rs754790920 0.00026
NM_022166.4(XYLT1):c.1358G>A (p.Arg453Gln) rs141079587 0.00023
NM_022166.4(XYLT1):c.1807G>A (p.Val603Met) rs187270026 0.00022
NM_001159773.2(CANT1):c.*1153C>T rs1027724116 0.00021
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met) rs201181440 0.00021
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_022166.4(XYLT1):c.694G>C (p.Asp232His) rs150214300 0.00021
NM_001159773.2(CANT1):c.*876G>A rs551101097 0.00019
NM_001159773.2(CANT1):c.-146-15C>T rs886053531 0.00016
NM_001159773.2(CANT1):c.-23+39G>A rs886053529 0.00015
NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln) rs150531859 0.00015
NM_001159773.2(CANT1):c.*301C>T rs576222698 0.00013
NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile) rs574064641 0.00013
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly) rs200053698 0.00013
NM_001159773.2(CANT1):c.*352G>A rs766546218 0.00012
NM_001159773.2(CANT1):c.835+6A>G rs375082589 0.00012
NM_001159773.2(CANT1):c.*1032G>T rs139951975 0.00011
NM_001159773.2(CANT1):c.-23+94T>G rs867691817 0.00011
NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu) rs139070566 0.00011
NM_001159773.2(CANT1):c.*919C>G rs777105575 0.00010
NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser) rs147101412 0.00010
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_001159773.2(CANT1):c.*174G>A rs544997912 0.00009
NM_001159773.2(CANT1):c.*57G>A rs886053525 0.00009
NM_001159773.2(CANT1):c.735G>A (p.Pro245=) rs138754148 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.139G>C (p.Gly47Arg) rs760732431 0.00007
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu) rs140976278 0.00007
NM_001159773.2(CANT1):c.*748T>A rs748455061 0.00006
NM_001159773.2(CANT1):c.556G>A (p.Val186Ile) rs199516699 0.00006
NM_022166.4(XYLT1):c.1764+4A>G rs757836390 0.00006
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr) rs770446499 0.00006
NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln) rs190383164 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_001159773.2(CANT1):c.*445G>A rs149131650 0.00005
NM_001159773.2(CANT1):c.119G>A (p.Arg40His) rs375819727 0.00005
NM_001159773.2(CANT1):c.969C>T (p.Ala323=) rs751735028 0.00005
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp) rs201009902 0.00005
NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr) rs141257295 0.00005
NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln) rs765703210 0.00005
NM_001159773.2(CANT1):c.-23+7A>G rs1332415937 0.00004
NM_001159773.2(CANT1):c.552G>A (p.Thr184=) rs762438787 0.00004
NM_001159773.2(CANT1):c.819C>T (p.Ala273=) rs571979064 0.00004
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) rs573652692 0.00004
NM_022166.4(XYLT1):c.2504C>T (p.Thr835Ile) rs372741635 0.00004
NM_022166.4(XYLT1):c.534G>T (p.Gln178His) rs142578304 0.00004
NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr) rs183356442 0.00004
NM_001159773.2(CANT1):c.125G>A (p.Arg42His) rs886053526 0.00003
NM_001159773.2(CANT1):c.246G>A (p.Ala82=) rs567995164 0.00003
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904 0.00003
NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu) rs774920895 0.00003
NM_001159773.2(CANT1):c.948C>T (p.Gly316=) rs556238561 0.00003
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.1588T>G (p.Ser530Ala) rs148992515 0.00003
NM_022166.4(XYLT1):c.1730A>G (p.Asn577Ser) rs368060072 0.00003
NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg) rs556515927 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.1627G>A (p.Asp543Asn) rs551025574 0.00002
NM_022166.4(XYLT1):c.1633A>G (p.Met545Val) rs747718750 0.00002
NM_022166.4(XYLT1):c.179C>T (p.Ala60Val) rs1294077633 0.00002
NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn) rs750411891 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.434A>C (p.Lys145Thr) rs760513040 0.00002
NM_001159773.2(CANT1):c.*1050C>T rs1461824358 0.00001
NM_001159773.2(CANT1):c.*1479C>A rs886053520 0.00001
NM_001159773.2(CANT1):c.*1484C>A rs886053519 0.00001
NM_001159773.2(CANT1):c.*223C>T rs886053524 0.00001
NM_001159773.2(CANT1):c.61A>G (p.Ser21Gly) rs886053527 0.00001
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) rs773215035 0.00001
NM_001159773.2(CANT1):c.809G>A (p.Arg270Gln) rs764240311 0.00001
NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys) rs569632479 0.00001
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.1638G>A (p.Val546=) rs2030849015 0.00001
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn) rs770094750 0.00001
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367 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.1939G>A (p.Val647Met) rs756272760 0.00001
NM_022166.4(XYLT1):c.1970G>A (p.Arg657His) rs748655641 0.00001
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) rs1275156523 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.416C>T (p.Ser139Phe) rs1251084213 0.00001
NM_022166.4(XYLT1):c.47C>T (p.Ser16Leu) rs1052524950 0.00001
NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser) rs1284737489 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.793A>G (p.Ile265Val) rs770182325 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.(?_15758636)_(17564653_?)dup
NC_000016.9:g.(?_17202552)_(17451927_?)dup
NC_000016.9:g.(?_17451859)_(17451917_?)del
NM_001159773.2(CANT1):c.*119G>A rs2070902561
NM_001159773.2(CANT1):c.*1264_*1265dup rs886053521
NM_001159773.2(CANT1):c.*1359C>T rs992643827
NM_001159773.2(CANT1):c.*1424GAAG[1] rs567566510
NM_001159773.2(CANT1):c.*163C>G rs529224814
NM_001159773.2(CANT1):c.*1731C>T rs2070850838
NM_001159773.2(CANT1):c.*24G>A rs760356756
NM_001159773.2(CANT1):c.*374C>T rs560554427
NM_001159773.2(CANT1):c.*450A>G rs886053523
NM_001159773.2(CANT1):c.*550A>C rs886053522
NM_001159773.2(CANT1):c.*569C>T rs2070889534
NM_001159773.2(CANT1):c.*753C>A rs745568057
NM_001159773.2(CANT1):c.*781C>A rs764123397
NM_001159773.2(CANT1):c.*813G>C rs535754990
NM_001159773.2(CANT1):c.*837C>T rs781025439
NM_001159773.2(CANT1):c.*998G>C rs78037898
NM_001159773.2(CANT1):c.-127C>A rs868277630
NM_001159773.2(CANT1):c.-164G>A rs886053532
NM_001159773.2(CANT1):c.-23+60A>G rs2071093869
NM_001159773.2(CANT1):c.-23+79T>C rs548338706
NM_001159773.2(CANT1):c.-81G>A rs886053530
NM_001159773.2(CANT1):c.187C>A (p.Arg63Ser) rs760657405
NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro) rs767659113
NM_001159773.2(CANT1):c.266A>T (p.Asp89Val) rs773784258
NM_001159773.2(CANT1):c.287C>T (p.Pro96Leu) rs375718883
NM_001159773.2(CANT1):c.54C>T (p.Leu18=) rs2071085962
NM_001159773.2(CANT1):c.570C>T (p.Ile190=) rs376733332
NM_001159773.2(CANT1):c.627G>T (p.Glu209Asp) rs2071055518
NM_001159773.2(CANT1):c.631+11C>A rs2145839791
NM_001159773.2(CANT1):c.702G>A (p.Thr234=) rs1023756732
NM_001159773.2(CANT1):c.780G>T (p.Glu260Asp) rs1438123632
NM_001159773.2(CANT1):c.835+10G>C rs779296231
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.1601C>T (p.Thr534Met)
NM_022166.4(XYLT1):c.161G>A (p.Gly54Glu) rs2036977208
NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)
NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)
NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys) rs2141515545
NM_022166.4(XYLT1):c.1765-8G>A
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.1793G>A (p.Arg598His)
NM_022166.4(XYLT1):c.1852G>A (p.Gly618Arg)
NM_022166.4(XYLT1):c.1883G>A (p.Arg628His)
NM_022166.4(XYLT1):c.1952T>G (p.Leu651Trp)
NM_022166.4(XYLT1):c.197A>T (p.Glu66Val)
NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu)
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.412T>C (p.Phe138Leu) rs2033690309
NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln)
NM_022166.4(XYLT1):c.436G>A (p.Val146Met) rs2033689677
NM_022166.4(XYLT1):c.45C>G (p.His15Gln)
NM_022166.4(XYLT1):c.4G>A (p.Val2Met) rs1567216029
NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile)
NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu)
NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala)
NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn)
NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg)
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.764C>T (p.Pro255Leu) rs771239606
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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