ClinVar Miner

List of variants reported as likely benign for Xanthinuria type II by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 257
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp) rs45564939 0.01229
NM_000379.4(XDH):c.1820G>A (p.Arg607Gln) rs45442092 0.00254
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_000379.4(XDH):c.2729C>T (p.Thr910Met) rs669884 0.00200
NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg) rs73922346 0.00193
NM_000379.4(XDH):c.1726C>T (p.Arg576Trp) rs139772558 0.00170
NM_017947.4(MOCOS):c.842C>T (p.Ala281Val) rs150272391 0.00157
NM_017947.4(MOCOS):c.431G>A (p.Arg144His) rs141483411 0.00148
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) rs45448694 0.00137
NM_000379.4(XDH):c.1774G>A (p.Val592Met) rs141314828 0.00131
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_017947.4(MOCOS):c.218T>C (p.Met73Thr) rs116981654 0.00095
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.3018T>C (p.Phe1006=) rs144883930 0.00067
NM_017947.4(MOCOS):c.667C>T (p.Arg223Trp) rs77632154 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.671G>A (p.Arg224Gln) rs112466737 0.00063
NM_017947.4(MOCOS):c.447C>T (p.Thr149=) rs142201209 0.00062
NM_000379.4(XDH):c.3052-4C>T rs370085305 0.00061
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.3930C>T (p.Cys1310=) rs138936101 0.00041
NM_017947.4(MOCOS):c.2270+18G>A rs368621821 0.00040
NM_000379.4(XDH):c.3774+15G>A rs202125003 0.00038
NM_017947.4(MOCOS):c.726C>T (p.Tyr242=) rs61739904 0.00027
NM_017947.4(MOCOS):c.456C>T (p.His152=) rs374709636 0.00026
NM_017947.4(MOCOS):c.2165-9C>T rs188625675 0.00024
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.3920G>A (p.Arg1307His) rs138249576 0.00020
NM_017947.4(MOCOS):c.1316T>C (p.Met439Thr) rs144644128 0.00020
NM_000379.4(XDH):c.617C>T (p.Pro206Leu) rs201332711 0.00019
NM_017947.4(MOCOS):c.2175T>G (p.Pro725=) rs151067903 0.00018
NM_000379.4(XDH):c.2969+8C>T rs374442016 0.00016
NM_017947.4(MOCOS):c.891G>A (p.Ala297=) rs368463866 0.00016
NM_000379.4(XDH):c.1749G>A (p.Ala583=) rs141831710 0.00014
NM_017947.4(MOCOS):c.1681G>A (p.Ala561Thr) rs577502738 0.00014
NM_000379.4(XDH):c.1785C>T (p.Asp595=) rs140066757 0.00013
NM_000379.4(XDH):c.3249C>T (p.Ser1083=) rs45562835 0.00012
NM_017947.4(MOCOS):c.354C>T (p.Ala118=) rs777970237 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.1132+11T>C rs372322137 0.00010
NM_000379.4(XDH):c.327C>T (p.His109=) rs370058590 0.00010
NM_000379.4(XDH):c.1042G>A (p.Val348Ile) rs192453952 0.00009
NM_000379.4(XDH):c.2631+20G>A rs370658508 0.00009
NM_017947.4(MOCOS):c.1422G>A (p.Thr474=) rs34489411 0.00009
NM_017947.4(MOCOS):c.1961-5A>T rs771076927 0.00006
NM_017947.4(MOCOS):c.1590G>A (p.Ser530=) rs137879052 0.00005
NM_017947.4(MOCOS):c.941+9G>C rs773763731 0.00005
NM_000379.4(XDH):c.1038+7C>T rs373596387 0.00004
NM_000379.4(XDH):c.1476G>A (p.Glu492=) rs763906993 0.00004
NM_000379.4(XDH):c.1647G>T (p.Leu549=) rs776000927 0.00004
NM_000379.4(XDH):c.3195C>T (p.Ser1065=) rs200293437 0.00004
NM_000379.4(XDH):c.867G>A (p.Ser289=) rs749391188 0.00004
NM_017947.4(MOCOS):c.2418G>A (p.Gly806=) rs528754639 0.00004
NM_000379.4(XDH):c.3738C>T (p.Arg1246=) rs151338723 0.00003
NM_000379.4(XDH):c.606G>A (p.Thr202=) rs752308380 0.00003
NM_000379.4(XDH):c.816T>C (p.Asn272=) rs770338067 0.00003
NM_017947.4(MOCOS):c.1128C>T (p.Ser376=) rs138618669 0.00003
NM_017947.4(MOCOS):c.1923C>T (p.Ile641=) rs200601583 0.00003
NM_017947.4(MOCOS):c.432C>T (p.Arg144=) rs756335430 0.00003
NM_017947.4(MOCOS):c.978C>T (p.Ile326=) rs540275885 0.00003
NM_000379.4(XDH):c.1119A>C (p.Thr373=) rs771331558 0.00002
NM_000379.4(XDH):c.1458G>A (p.Val486=) rs377080200 0.00002
NM_000379.4(XDH):c.2197+18C>T rs756126817 0.00002
NM_000379.4(XDH):c.2198-5C>T rs1310965576 0.00002
NM_000379.4(XDH):c.336G>A (p.Gln112=) rs747410096 0.00002
NM_000379.4(XDH):c.600G>A (p.Glu200=) rs779192880 0.00002
NM_000379.4(XDH):c.786G>A (p.Thr262=) rs201436175 0.00002
NM_017947.4(MOCOS):c.1905C>T (p.Cys635=) rs910676616 0.00002
NM_017947.4(MOCOS):c.1926C>T (p.Asp642=) rs143158108 0.00002
NM_000379.4(XDH):c.1581G>A (p.Leu527=) rs138859065 0.00001
NM_000379.4(XDH):c.1686+19T>C rs1377777880 0.00001
NM_000379.4(XDH):c.1737C>G (p.Pro579=) rs376148012 0.00001
NM_000379.4(XDH):c.225C>G (p.Ala75=) rs368792036 0.00001
NM_000379.4(XDH):c.2433G>A (p.Thr811=) rs757886455 0.00001
NM_000379.4(XDH):c.2493T>C (p.Asp831=) rs200505239 0.00001
NM_000379.4(XDH):c.2544+10G>A rs369796722 0.00001
NM_000379.4(XDH):c.3519+13C>G rs923415065 0.00001
NM_000379.4(XDH):c.3586-9A>G rs374510232 0.00001
NM_000379.4(XDH):c.3948C>T (p.Thr1316=) rs1169348675 0.00001
NM_000379.4(XDH):c.534T>C (p.Asn178=) rs762679791 0.00001
NM_000379.4(XDH):c.565-17G>A rs1207902172 0.00001
NM_000379.4(XDH):c.887-17C>T rs372070057 0.00001
NM_017947.4(MOCOS):c.1020T>A (p.Gly340=) rs751808609 0.00001
NM_017947.4(MOCOS):c.1219-4G>A rs761900858 0.00001
NM_017947.4(MOCOS):c.1960+13C>T rs780074634 0.00001
NM_017947.4(MOCOS):c.1961-9G>C rs747106888 0.00001
NM_017947.4(MOCOS):c.252C>T (p.Asn84=) rs778824731 0.00001
NM_017947.4(MOCOS):c.2622T>A (p.Gly874=) rs757456599 0.00001
NM_000379.4(XDH):c.100+15G>C
NM_000379.4(XDH):c.101-8C>T
NM_000379.4(XDH):c.1020G>A (p.Lys340=)
NM_000379.4(XDH):c.1038+13C>G
NM_000379.4(XDH):c.1050G>C (p.Gly350=) rs772619207
NM_000379.4(XDH):c.1077C>T (p.Ser359=)
NM_000379.4(XDH):c.1089C>T (p.Pro363=) rs267599349
NM_000379.4(XDH):c.1104T>C (p.Ser368=)
NM_000379.4(XDH):c.1212G>A (p.Leu404=)
NM_000379.4(XDH):c.1323A>G (p.Leu441=)
NM_000379.4(XDH):c.135G>A (p.Glu45=)
NM_000379.4(XDH):c.1425C>A (p.Ser475=)
NM_000379.4(XDH):c.1427+18A>G
NM_000379.4(XDH):c.1428-16C>A rs778406731
NM_000379.4(XDH):c.1428-18C>T
NM_000379.4(XDH):c.144C>T (p.Cys48=)
NM_000379.4(XDH):c.1455C>T (p.Asp485=)
NM_000379.4(XDH):c.1494C>T (p.Pro498=)
NM_000379.4(XDH):c.156A>G (p.Thr52=)
NM_000379.4(XDH):c.1662C>T (p.Pro554=)
NM_000379.4(XDH):c.1663C>A (p.Pro555Thr) rs45577338
NM_000379.4(XDH):c.1686+15T>C
NM_000379.4(XDH):c.1856+13G>A
NM_000379.4(XDH):c.1929G>A (p.Gly643=) rs375460228
NM_000379.4(XDH):c.198-4C>T
NM_000379.4(XDH):c.1981-10C>T
NM_000379.4(XDH):c.2100+20C>A
NM_000379.4(XDH):c.2145C>T (p.Ile715=) rs267599348
NM_000379.4(XDH):c.2163G>A (p.Lys721=)
NM_000379.4(XDH):c.2197+17_2197+26del
NM_000379.4(XDH):c.21T>C (p.Val7=)
NM_000379.4(XDH):c.2323-9C>T
NM_000379.4(XDH):c.2457-9A>G
NM_000379.4(XDH):c.2544+19G>A
NM_000379.4(XDH):c.2545-20C>T
NM_000379.4(XDH):c.2545-5A>G
NM_000379.4(XDH):c.2631+19C>T
NM_000379.4(XDH):c.2631+8G>A
NM_000379.4(XDH):c.2632-11C>G
NM_000379.4(XDH):c.2676C>G (p.Ile892Met) rs200911206
NM_000379.4(XDH):c.2685C>T (p.Ile895=)
NM_000379.4(XDH):c.2703G>A (p.Leu901=) rs2148756811
NM_000379.4(XDH):c.2706C>T (p.Cys902=) rs955933583
NM_000379.4(XDH):c.2730G>A (p.Thr910=) rs376072451
NM_000379.4(XDH):c.2751G>A (p.Gly917=) rs369230654
NM_000379.4(XDH):c.2772C>T (p.Ala924=)
NM_000379.4(XDH):c.2832A>G (p.Arg944=) rs776261460
NM_000379.4(XDH):c.2853G>A (p.Gly951=)
NM_000379.4(XDH):c.2916C>T (p.Cys972=)
NM_000379.4(XDH):c.2919A>G (p.Leu973=)
NM_000379.4(XDH):c.292C>T (p.Leu98=)
NM_000379.4(XDH):c.2970-10T>C
NM_000379.4(XDH):c.306+19G>A
NM_000379.4(XDH):c.3144C>G (p.Val1048=)
NM_000379.4(XDH):c.3147+10C>G
NM_000379.4(XDH):c.3147+12T>C
NM_000379.4(XDH):c.3148-19A>G
NM_000379.4(XDH):c.3148-4G>C rs545686434
NM_000379.4(XDH):c.3165G>A (p.Leu1055=) rs2148754583
NM_000379.4(XDH):c.324C>T (p.Ser108=)
NM_000379.4(XDH):c.3270C>T (p.Ala1090=)
NM_000379.4(XDH):c.3276+19C>T
NM_000379.4(XDH):c.3277-18G>T
NM_000379.4(XDH):c.3351+10A>C
NM_000379.4(XDH):c.3404+10G>C rs773067358
NM_000379.4(XDH):c.3404+17C>T
NM_000379.4(XDH):c.3520-14G>T
NM_000379.4(XDH):c.3549T>G (p.Val1183=)
NM_000379.4(XDH):c.3576T>C (p.Asp1192=)
NM_000379.4(XDH):c.3585+20G>C
NM_000379.4(XDH):c.360C>T (p.Ile120=)
NM_000379.4(XDH):c.3615C>A (p.Gly1205=)
NM_000379.4(XDH):c.3648C>T (p.Pro1216=)
NM_000379.4(XDH):c.3693G>A (p.Pro1231=)
NM_000379.4(XDH):c.3764A>T (p.Tyr1255Phe)
NM_000379.4(XDH):c.3768A>T (p.Ala1256=)
NM_000379.4(XDH):c.3774+17T>A
NM_000379.4(XDH):c.3822C>T (p.Ala1274=)
NM_000379.4(XDH):c.3867T>C (p.Asn1289=)
NM_000379.4(XDH):c.433+18C>T
NM_000379.4(XDH):c.434-14T>G
NM_000379.4(XDH):c.434-4A>G
NM_000379.4(XDH):c.468C>T (p.Ile156=)
NM_000379.4(XDH):c.48G>A (p.Val16=) rs2148010588
NM_000379.4(XDH):c.495+8G>A rs2148003135
NM_000379.4(XDH):c.496-14C>A
NM_000379.4(XDH):c.522G>T (p.Gly174=)
NM_000379.4(XDH):c.561C>T (p.His187=)
NM_000379.4(XDH):c.564+14_564+16del
NM_000379.4(XDH):c.565-14C>G
NM_000379.4(XDH):c.565-5C>T
NM_000379.4(XDH):c.576G>A (p.Ser192=)
NM_000379.4(XDH):c.654G>A (p.Arg218=)
NM_000379.4(XDH):c.657G>A (p.Leu219=)
NM_000379.4(XDH):c.705G>A (p.Thr235=)
NM_000379.4(XDH):c.717C>T (p.Ala239=) rs763393500
NM_000379.4(XDH):c.744C>A (p.Leu248=) rs1558307331
NM_000379.4(XDH):c.762C>A (p.Asp254Glu) rs140858800
NM_000379.4(XDH):c.762C>T (p.Asp254=)
NM_000379.4(XDH):c.78T>C (p.Leu26=)
NM_000379.4(XDH):c.793+19G>T
NM_000379.4(XDH):c.793+20C>T
NM_000379.4(XDH):c.794-12G>A
NM_000379.4(XDH):c.794-18C>T rs2148782478
NM_000379.4(XDH):c.794-6C>G
NM_000379.4(XDH):c.837C>G (p.Val279=)
NM_000379.4(XDH):c.879A>G (p.Gly293=)
NM_000379.4(XDH):c.886+10G>C
NM_000379.4(XDH):c.887-16G>A
NM_000379.4(XDH):c.887-8G>A
NM_000379.4(XDH):c.909C>T (p.Cys303=)
NM_000379.4(XDH):c.912C>T (p.Pro304=)
NM_000379.4(XDH):c.915G>C (p.Leu305=)
NM_017947.4(MOCOS):c.1018+17A>G
NM_017947.4(MOCOS):c.1018+20C>T
NM_017947.4(MOCOS):c.1018+9A>T
NM_017947.4(MOCOS):c.1019-15C>T
NM_017947.4(MOCOS):c.1071_1072delinsTA (p.Val358Met)
NM_017947.4(MOCOS):c.1182G>A (p.Val394=) rs770827269
NM_017947.4(MOCOS):c.1219-5C>T
NM_017947.4(MOCOS):c.1233C>A (p.Ala411=)
NM_017947.4(MOCOS):c.1257A>T (p.Arg419=)
NM_017947.4(MOCOS):c.1311C>T (p.Asn437=)
NM_017947.4(MOCOS):c.1335+18C>T
NM_017947.4(MOCOS):c.1336-5_1336-4insAA
NM_017947.4(MOCOS):c.1455C>T (p.Ile485=)
NM_017947.4(MOCOS):c.1516G>T (p.Gly506Trp) rs149198061
NM_017947.4(MOCOS):c.1557T>G (p.Val519=) rs2144917132
NM_017947.4(MOCOS):c.1563T>C (p.Pro521=) rs1216061841
NM_017947.4(MOCOS):c.1680C>A (p.Val560=)
NM_017947.4(MOCOS):c.1680C>T (p.Val560=)
NM_017947.4(MOCOS):c.1692G>A (p.Gln564=) rs1598878424
NM_017947.4(MOCOS):c.171C>T (p.Ala57=) rs2144896102
NM_017947.4(MOCOS):c.1740G>A (p.Gly580=)
NM_017947.4(MOCOS):c.1797+20C>T
NM_017947.4(MOCOS):c.1953A>G (p.Lys651=)
NM_017947.4(MOCOS):c.2039+18G>T
NM_017947.4(MOCOS):c.2040-16C>G
NM_017947.4(MOCOS):c.204C>T (p.Phe68=)
NM_017947.4(MOCOS):c.2214G>A (p.Gln738=)
NM_017947.4(MOCOS):c.2232A>C (p.Thr744=)
NM_017947.4(MOCOS):c.233-12G>T
NM_017947.4(MOCOS):c.233-20T>G
NM_017947.4(MOCOS):c.2541T>C (p.His847=)
NM_017947.4(MOCOS):c.2649C>T (p.His883=) rs746148451
NM_017947.4(MOCOS):c.300-13G>A
NM_017947.4(MOCOS):c.462C>A (p.Ser154=)
NM_017947.4(MOCOS):c.462C>T (p.Ser154=) rs373748036
NM_017947.4(MOCOS):c.513G>A (p.Pro171=)
NM_017947.4(MOCOS):c.54C>T (p.Ser18=) rs2144887356
NM_017947.4(MOCOS):c.567C>T (p.Asn189=)
NM_017947.4(MOCOS):c.603A>T (p.Pro201=)
NM_017947.4(MOCOS):c.627C>G (p.Val209=)
NM_017947.4(MOCOS):c.687G>A (p.Thr229=)
NM_017947.4(MOCOS):c.693G>A (p.Gly231=)
NM_017947.4(MOCOS):c.738G>A (p.Ser246=)
NM_017947.4(MOCOS):c.819C>T (p.Gly273=)
NM_017947.4(MOCOS):c.850C>T (p.Leu284=)
NM_017947.4(MOCOS):c.890C>T (p.Ala297Val) rs139002197
NM_017947.4(MOCOS):c.941+16G>C
NM_017947.4(MOCOS):c.941+23del rs544708547
NM_017947.4(MOCOS):c.972T>C (p.Asp324=)

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