ClinVar Miner

List of variants in gene XDH studied for Hereditary xanthinuria type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3030T>C (p.Phe1010=) rs1884725 0.77423
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000379.4(XDH):c.3052-12C>G rs13415401 0.74590
NM_000379.4(XDH):c.1243-43A>G rs10187719 0.73983
NM_000379.4(XDH):c.*1477A>G rs6710015 0.43278
NM_000379.4(XDH):c.*518A>G rs1042039 0.40737
NM_000379.4(XDH):c.*1516C>T rs1054889 0.40251
NM_000379.4(XDH):c.*1555G>T rs6752058 0.26925
NM_000379.4(XDH):c.2211C>T (p.Ile737=) rs2295475 0.24290
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368 0.05740
NM_000379.4(XDH):c.3717G>A (p.Glu1239=) rs207440 0.05236
NM_000379.4(XDH):c.*1081A>G rs45488100 0.03374
NM_000379.4(XDH):c.*41G>C rs45593434 0.03354
NM_000379.4(XDH):c.627G>A (p.Glu209=) rs45575032 0.02778
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290 0.02692
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133 0.02328
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225 0.02243
NM_000379.4(XDH):c.1686+8C>T rs17395224 0.02225
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837 0.02155
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738 0.02057
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_000379.4(XDH):c.*878T>C rs45532535 0.01583
NM_000379.4(XDH):c.1509C>G (p.Gly503=) rs45612839 0.01566
NM_000379.4(XDH):c.1329G>A (p.Lys443=) rs45471294 0.01418
NM_000379.4(XDH):c.-66G>C rs36208390 0.01351
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp) rs45564939 0.01229
NM_000379.4(XDH):c.1857-4G>A rs17395175 0.00541
NM_000379.4(XDH):c.3405-15T>C rs141728694 0.00516
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala) rs45491693 0.00492
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu) rs141335716 0.00485
NM_000379.4(XDH):c.3951+14C>G rs201055814 0.00484
NM_000379.4(XDH):c.*694T>C rs111248199 0.00455
NM_000379.4(XDH):c.397G>A (p.Glu133Lys) rs45447191 0.00362
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu) rs45619033 0.00328
NM_000379.4(XDH):c.405C>T (p.Thr135=) rs72549370 0.00299
NM_000379.4(XDH):c.495+15C>T rs183572308 0.00280
NM_000379.4(XDH):c.1820G>A (p.Arg607Gln) rs45442092 0.00254
NM_000379.4(XDH):c.1629C>T (p.Phe543=) rs140651875 0.00250
NM_000379.4(XDH):c.1856+7G>A rs184028774 0.00228
NM_000379.4(XDH):c.2634T>C (p.Ile878=) rs146994573 0.00224
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_000379.4(XDH):c.882C>T (p.Pro294=) rs138246330 0.00195
NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg) rs73922346 0.00193
NM_000379.4(XDH):c.1427+15C>A rs116569100 0.00186
NM_000379.4(XDH):c.1726C>T (p.Arg576Trp) rs139772558 0.00170
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) rs45448694 0.00137
NM_000379.4(XDH):c.2037A>C (p.Thr679=) rs139998082 0.00129
NM_000379.4(XDH):c.1274C>G (p.Ser425Cys) rs138649664 0.00113
NM_000379.4(XDH):c.822G>A (p.Leu274=) rs113345553 0.00108
NM_000379.4(XDH):c.*913T>A rs1041974360 0.00097
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 0.00095
NM_000379.4(XDH):c.*628A>G rs563597138 0.00089
NM_000379.4(XDH):c.2362A>T (p.Ile788Phe) rs141050887 0.00083
NM_000379.4(XDH):c.*308C>A rs45460500 0.00078
NM_000379.4(XDH):c.*881G>A rs544639351 0.00078
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) rs143981573 0.00078
NM_000379.4(XDH):c.101-7C>T rs113007282 0.00069
NM_000379.4(XDH):c.883G>A (p.Asp295Asn) rs142335345 0.00068
NM_000379.4(XDH):c.*912A>T rs45456093 0.00067
NM_000379.4(XDH):c.3018T>C (p.Phe1006=) rs144883930 0.00067
NM_000379.4(XDH):c.825T>C (p.Phe275=) rs145596057 0.00066
NM_000379.4(XDH):c.3864T>C (p.Gly1288=) rs148477626 0.00064
NM_000379.4(XDH):c.3052-4C>T rs370085305 0.00061
NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr) rs45547640 0.00060
NM_000379.4(XDH):c.1911C>T (p.Ser637=) rs142197675 0.00058
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_000379.4(XDH):c.2851G>A (p.Gly951Arg) rs142675390 0.00053
NM_000379.4(XDH):c.859C>G (p.Leu287Val) rs138674014 0.00052
NM_000379.4(XDH):c.192G>T (p.Lys64Asn) rs182317768 0.00046
NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys) rs142329784 0.00045
NM_000379.4(XDH):c.3871G>A (p.Val1291Met) rs191740294 0.00045
NM_000379.4(XDH):c.3887G>A (p.Arg1296Gln) rs139691722 0.00045
NM_000379.4(XDH):c.2441C>T (p.Ala814Val) rs148585342 0.00044
NM_000379.4(XDH):c.793+19G>A rs45625137 0.00043
NM_000379.4(XDH):c.2452T>C (p.Tyr818His) rs139272198 0.00041
NM_000379.4(XDH):c.3930C>T (p.Cys1310=) rs138936101 0.00041
NM_000379.4(XDH):c.463C>A (p.Pro155Thr) rs145413551 0.00041
NM_000379.4(XDH):c.*1062T>C rs116182082 0.00040
NM_000379.4(XDH):c.670C>T (p.Arg224Trp) rs147533056 0.00040
NM_000379.4(XDH):c.3774+15G>A rs202125003 0.00038
NM_000379.4(XDH):c.*570G>C rs117803955 0.00034
NM_000379.4(XDH):c.2360G>A (p.Arg787Gln) rs149717617 0.00030
NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile) rs148235835 0.00029
NM_000379.4(XDH):c.3771G>A (p.Ser1257=) rs45594136 0.00028
NM_000379.4(XDH):c.704C>T (p.Thr235Met) rs45469499 0.00026
NM_000379.4(XDH):c.*1452C>T rs886055941 0.00023
NM_000379.4(XDH):c.1773C>T (p.Ala591=) rs145108969 0.00023
NM_000379.4(XDH):c.1037C>T (p.Ala346Val) rs142388231 0.00022
NM_000379.4(XDH):c.2460C>T (p.Thr820=) rs143539472 0.00022
NM_000379.4(XDH):c.2437G>C (p.Val813Leu) rs142951412 0.00021
NM_000379.4(XDH):c.1819C>T (p.Arg607Trp) rs201464771 0.00019
NM_000379.4(XDH):c.2911G>A (p.Glu971Lys) rs148921536 0.00019
NM_000379.4(XDH):c.617C>T (p.Pro206Leu) rs201332711 0.00019
NM_000379.4(XDH):c.1523G>A (p.Arg508Gln) rs148603901 0.00017
NM_000379.4(XDH):c.977T>G (p.Val326Gly) rs761592093 0.00017
NM_000379.4(XDH):c.*1338G>T rs778627537 0.00016
NM_000379.4(XDH):c.2969+8C>T rs374442016 0.00016
NM_000379.4(XDH):c.349A>T (p.Thr117Ser) rs556797607 0.00016
NM_000379.4(XDH):c.*699C>T rs542769393 0.00015
NM_000379.4(XDH):c.1210C>A (p.Leu404Met) rs372033714 0.00014
NM_000379.4(XDH):c.1597G>A (p.Glu533Lys) rs147476468 0.00014
NM_000379.4(XDH):c.1749G>A (p.Ala583=) rs141831710 0.00014
NM_000379.4(XDH):c.1617G>T (p.Leu539=) rs117399514 0.00013
NM_000379.4(XDH):c.1785C>T (p.Asp595=) rs140066757 0.00013
NM_000379.4(XDH):c.1896T>G (p.Phe632Leu) rs149593992 0.00013
NM_000379.4(XDH):c.2102A>T (p.Asp701Val) rs527413763 0.00013
NM_000379.4(XDH):c.1912G>A (p.Ala638Thr) rs202112369 0.00012
NM_000379.4(XDH):c.3249C>T (p.Ser1083=) rs45562835 0.00012
NM_000379.4(XDH):c.1243-7C>G rs200362582 0.00011
NM_000379.4(XDH):c.1800C>T (p.Tyr600=) rs139964785 0.00011
NM_000379.4(XDH):c.1856+10A>G rs372889724 0.00011
NM_000379.4(XDH):c.3789G>A (p.Pro1263=) rs202077714 0.00011
NM_000379.4(XDH):c.*1494A>G rs371568987 0.00010
NM_000379.4(XDH):c.1132+11T>C rs372322137 0.00010
NM_000379.4(XDH):c.327C>T (p.His109=) rs370058590 0.00010
NM_000379.4(XDH):c.328G>A (p.Gly110Ser) rs147286954 0.00010
NM_000379.4(XDH):c.1042G>A (p.Val348Ile) rs192453952 0.00009
NM_000379.4(XDH):c.2359C>T (p.Arg787Trp) rs148904866 0.00009
NM_000379.4(XDH):c.2631+20G>A rs370658508 0.00009
NM_000379.4(XDH):c.429C>G (p.Phe143Leu) rs780614997 0.00009
NM_000379.4(XDH):c.482G>A (p.Arg161Gln) rs200810102 0.00009
NM_000379.4(XDH):c.2413C>T (p.Arg805Trp) rs140007233 0.00008
NM_000379.4(XDH):c.*1407C>T rs886055942 0.00006
NM_000379.4(XDH):c.*6G>A rs199714131 0.00006
NM_000379.4(XDH):c.*829G>A rs886055944 0.00006
NM_000379.4(XDH):c.*945C>A rs567451050 0.00006
NM_000379.4(XDH):c.1796G>A (p.Arg599His) rs200795066 0.00006
NM_000379.4(XDH):c.33T>G (p.Asn11Lys) rs201779309 0.00006
NM_000379.4(XDH):c.445C>T (p.Arg149Cys) rs72549369 0.00006
NM_000379.4(XDH):c.446G>A (p.Arg149His) rs148108999 0.00006
NM_000379.4(XDH):c.1602+1G>A rs376882470 0.00005
NM_000379.4(XDH):c.1990G>A (p.Val664Ile) rs201301387 0.00005
NM_000379.4(XDH):c.2013G>A (p.Val671=) rs200635805 0.00005
NM_000379.4(XDH):c.3649G>A (p.Glu1217Lys) rs202023189 0.00005
NM_000379.4(XDH):c.*1183T>A rs747801050 0.00004
NM_000379.4(XDH):c.*437C>T rs966900952 0.00004
NM_000379.4(XDH):c.1038+7C>T rs373596387 0.00004
NM_000379.4(XDH):c.1647G>T (p.Leu549=) rs776000927 0.00004
NM_000379.4(XDH):c.182T>C (p.Leu61Pro) rs765864735 0.00004
NM_000379.4(XDH):c.1970C>T (p.Ala657Val) rs143481133 0.00004
NM_000379.4(XDH):c.2164A>T (p.Lys722Ter) rs72549367 0.00004
NM_000379.4(XDH):c.2773G>A (p.Glu925Lys) rs755782316 0.00004
NM_000379.4(XDH):c.2828G>A (p.Arg943Gln) rs138396004 0.00004
NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser) rs370788512 0.00004
NM_000379.4(XDH):c.3919C>T (p.Arg1307Cys) rs371280381 0.00004
NM_000379.4(XDH):c.867G>A (p.Ser289=) rs749391188 0.00004
NM_000379.4(XDH):c.*686A>C rs1053588280 0.00003
NM_000379.4(XDH):c.*823A>G rs886055945 0.00003
NM_000379.4(XDH):c.1319T>A (p.Val440Asp) rs750893035 0.00003
NM_000379.4(XDH):c.167C>G (p.Ser56Cys) rs754593222 0.00003
NM_000379.4(XDH):c.1687-8C>A rs370270278 0.00003
NM_000379.4(XDH):c.2252T>C (p.Ile751Thr) rs767059856 0.00003
NM_000379.4(XDH):c.3263G>A (p.Gly1088Glu) rs201855759 0.00003
NM_000379.4(XDH):c.3527G>A (p.Arg1176His) rs529891514 0.00003
NM_000379.4(XDH):c.3677G>A (p.Ser1226Asn) rs770177408 0.00003
NM_000379.4(XDH):c.485C>A (p.Thr162Asn) rs766718491 0.00003
NM_000379.4(XDH):c.530C>A (p.Pro177Gln) rs781730239 0.00003
NM_000379.4(XDH):c.606G>A (p.Thr202=) rs752308380 0.00003
NM_000379.4(XDH):c.698G>T (p.Arg233Leu) rs201194179 0.00003
NM_000379.4(XDH):c.785C>T (p.Thr262Met) rs772666572 0.00003
NM_000379.4(XDH):c.816T>C (p.Asn272=) rs770338067 0.00003
NM_000379.4(XDH):c.1242+7T>C rs751688778 0.00002
NM_000379.4(XDH):c.1522C>T (p.Arg508Trp) rs778513905 0.00002
NM_000379.4(XDH):c.2027C>T (p.Pro676Leu) rs751442650 0.00002
NM_000379.4(XDH):c.3163C>G (p.Leu1055Val) rs756000543 0.00002
NM_000379.4(XDH):c.3210C>G (p.Asn1070Lys) rs769346803 0.00002
NM_000379.4(XDH):c.3614G>C (p.Gly1205Ala) rs771705764 0.00002
NM_000379.4(XDH):c.545A>G (p.Asn182Ser) rs770109772 0.00002
NM_000379.4(XDH):c.786G>A (p.Thr262=) rs201436175 0.00002
NM_000379.4(XDH):c.*105C>G rs569028479 0.00001
NM_000379.4(XDH):c.*1417A>G rs1443896769 0.00001
NM_000379.4(XDH):c.*404C>T rs759403236 0.00001
NM_000379.4(XDH):c.*43T>C rs767465507 0.00001
NM_000379.4(XDH):c.*731A>G rs1684942298 0.00001
NM_000379.4(XDH):c.1304C>A (p.Thr435Asn) rs1229639047 0.00001
NM_000379.4(XDH):c.1456G>A (p.Val486Met) rs750077909 0.00001
NM_000379.4(XDH):c.1581G>A (p.Leu527=) rs138859065 0.00001
NM_000379.4(XDH):c.2198-2A>C rs1281159761 0.00001
NM_000379.4(XDH):c.225C>G (p.Ala75=) rs368792036 0.00001
NM_000379.4(XDH):c.2268C>T (p.Gly756=) rs886055946 0.00001
NM_000379.4(XDH):c.2274del (p.Glu760fs) rs760186813 0.00001
NM_000379.4(XDH):c.2299A>G (p.Thr767Ala) rs367726228 0.00001
NM_000379.4(XDH):c.2488C>T (p.Arg830Cys) rs781137664 0.00001
NM_000379.4(XDH):c.2728A>G (p.Thr910Ala) rs1426236024 0.00001
NM_000379.4(XDH):c.2858T>G (p.Leu953Arg) rs137975977 0.00001
NM_000379.4(XDH):c.3059C>T (p.Ala1020Val) rs536923494 0.00001
NM_000379.4(XDH):c.3154A>G (p.Ser1052Gly) rs777296789 0.00001
NM_000379.4(XDH):c.3352-2A>G rs758748687 0.00001
NM_000379.4(XDH):c.3354C>G (p.Val1118=) rs750811341 0.00001
NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) rs1553411468 0.00001
NM_000379.4(XDH):c.3488T>C (p.Val1163Ala) rs142988357 0.00001
NM_000379.4(XDH):c.3519+13C>G rs923415065 0.00001
NM_000379.4(XDH):c.3662A>G (p.His1221Arg) rs376191022 0.00001
NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter) rs751921838 0.00001
NM_000379.4(XDH):c.3953G>A (p.Cys1318Tyr) rs2295474 0.00001
NM_000379.4(XDH):c.565-17G>A rs1207902172 0.00001
NM_000379.4(XDH):c.652-5C>T rs1318178096 0.00001
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) rs119460972 0.00001
NM_000379.4(XDH):c.826C>T (p.Pro276Ser) rs1442917442 0.00001
NM_000379.4(XDH):c.*1220C>T rs1684930619
NM_000379.4(XDH):c.*1264G>A rs1684929386
NM_000379.4(XDH):c.*1491A>G rs886055940
NM_000379.4(XDH):c.*1601G>A rs1684921207
NM_000379.4(XDH):c.*193G>A rs147693897
NM_000379.4(XDH):c.*193G>T rs147693897
NM_000379.4(XDH):c.*220G>T rs1684955370
NM_000379.4(XDH):c.*371C>T rs1684951422
NM_000379.4(XDH):c.*475A>C rs372973524
NM_000379.4(XDH):c.*674C>G rs1684944782
NM_000379.4(XDH):c.*693G>A rs1207826319
NM_000379.4(XDH):c.*732T>C rs1684942282
NM_000379.4(XDH):c.*938G>T rs193245354
NM_000379.4(XDH):c.1038G>A (p.Ala346=) rs557992688
NM_000379.4(XDH):c.1276C>G (p.Arg426Gly) rs749209037
NM_000379.4(XDH):c.1287T>A (p.Asp429Glu) rs1686268355
NM_000379.4(XDH):c.136G>C (p.Gly46Arg) rs758425792
NM_000379.4(XDH):c.140dup (p.Cys48fs) rs773456900
NM_000379.4(XDH):c.1480C>A (p.Leu494Met) rs767352182
NM_000379.4(XDH):c.1495G>A (p.Asp499Asn) rs150262349
NM_000379.4(XDH):c.1510A>G (p.Met504Val) rs2148774872
NM_000379.4(XDH):c.1663C>A (p.Pro555Thr) rs45577338
NM_000379.4(XDH):c.1663C>T (p.Pro555Ser) rs45577338
NM_000379.4(XDH):c.1885G>A (p.Val629Ile) rs148464316
NM_000379.4(XDH):c.1885G>T (p.Val629Phe) rs148464316
NM_000379.4(XDH):c.1901G>T (p.Cys634Phe) rs886055947
NM_000379.4(XDH):c.1988G>A (p.Cys663Tyr)
NM_000379.4(XDH):c.2006G>C (p.Gly669Ala)
NM_000379.4(XDH):c.2100+19_2100+22del rs45446491
NM_000379.4(XDH):c.2176G>C (p.Glu726Gln) rs61731083
NM_000379.4(XDH):c.2187TGT[1] (p.Val731del) rs760761330
NM_000379.4(XDH):c.2323-10T>G rs1685910212
NM_000379.4(XDH):c.2344G>A (p.Gly782Arg) rs544529260
NM_000379.4(XDH):c.2540A>G (p.Tyr847Cys) rs1311232806
NM_000379.4(XDH):c.2544+35A>T rs2365842
NM_000379.4(XDH):c.2554A>T (p.Met852Leu) rs766142390
NM_000379.4(XDH):c.2567del (p.Thr856fs) rs1572530443
NM_000379.4(XDH):c.2751G>A (p.Gly917=) rs369230654
NM_000379.4(XDH):c.2751del (p.Gln919fs) rs772878388
NM_000379.4(XDH):c.280A>C (p.Thr94Pro) rs759653817
NM_000379.4(XDH):c.2969+66dup rs11408029
NM_000379.4(XDH):c.3043C>T (p.Leu1015=) rs1685374947
NM_000379.4(XDH):c.3148-4G>T rs545686434
NM_000379.4(XDH):c.3206C>G (p.Thr1069Ser) rs1685335731
NM_000379.4(XDH):c.3277-14G>T rs1685310427
NM_000379.4(XDH):c.3520-1G>C rs1172253757
NM_000379.4(XDH):c.3562A>C (p.Asn1188His) rs1685119218
NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe) rs375290824
NM_000379.4(XDH):c.436A>G (p.Asn146Asp) rs1686949053
NM_000379.4(XDH):c.495+13C>G rs776159403
NM_000379.4(XDH):c.641del (p.Pro214fs) rs778685046
NM_000379.4(XDH):c.670C>A (p.Arg224=) rs147533056
NM_000379.4(XDH):c.751C>T (p.Gln251Ter)
NM_000379.4(XDH):c.775G>A (p.Val259Met) rs373279221
NM_000379.4(XDH):c.787G>A (p.Glu263Lys) rs1686596086

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