ClinVar Miner

List of variants in gene XDH reported as uncertain significance for Hereditary xanthinuria type 1

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Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.*694T>C rs111248199 0.00455
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.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.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.*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.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.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.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.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.2360G>A (p.Arg787Gln) rs149717617 0.00030
NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile) rs148235835 0.00029
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.1037C>T (p.Ala346Val) rs142388231 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.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.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.*1494A>G rs371568987 0.00010
NM_000379.4(XDH):c.1132+11T>C rs372322137 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.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.446G>A (p.Arg149His) rs148108999 0.00006
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.182T>C (p.Leu61Pro) rs765864735 0.00004
NM_000379.4(XDH):c.1970C>T (p.Ala657Val) rs143481133 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.*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.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.*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.2268C>T (p.Gly756=) rs886055946 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.3354C>G (p.Val1118=) rs750811341 0.00001
NM_000379.4(XDH):c.3488T>C (p.Val1163Ala) rs142988357 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.652-5C>T rs1318178096 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.*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.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>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.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.2554A>T (p.Met852Leu) rs766142390
NM_000379.4(XDH):c.2751G>A (p.Gly917=) rs369230654
NM_000379.4(XDH):c.280A>C (p.Thr94Pro) rs759653817
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.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.670C>A (p.Arg224=) rs147533056
NM_000379.4(XDH):c.775G>A (p.Val259Met) rs373279221
NM_000379.4(XDH):c.787G>A (p.Glu263Lys) rs1686596086

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