ClinVar Miner

List of variants reported for Hereditary xanthinuria type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_000379.4(XDH):c.3405-15T>C rs141728694 0.00516
NM_000379.4(XDH):c.1427+15C>A rs116569100 0.00186
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 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.1911C>T (p.Ser637=) rs142197675 0.00058
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.793+19G>A rs45625137 0.00043
NM_000379.4(XDH):c.463C>A (p.Pro155Thr) rs145413551 0.00041
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.1773C>T (p.Ala591=) rs145108969 0.00023
NM_000379.4(XDH):c.2460C>T (p.Thr820=) rs143539472 0.00022
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.977T>G (p.Val326Gly) rs761592093 0.00017
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.1210C>A (p.Leu404Met) rs372033714 0.00014
NM_000379.4(XDH):c.1597G>A (p.Glu533Lys) rs147476468 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.3789G>A (p.Pro1263=) rs202077714 0.00011
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.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.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.1602+1G>A rs376882470 0.00005
NM_000379.4(XDH):c.3649G>A (p.Glu1217Lys) rs202023189 0.00005
NM_000379.4(XDH):c.1647G>T (p.Leu549=) rs776000927 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.867G>A (p.Ser289=) rs749391188 0.00004
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.2252T>C (p.Ile751Thr) rs767059856 0.00003
NM_000379.4(XDH):c.3263G>A (p.Gly1088Glu) rs201855759 0.00003
NM_000379.4(XDH):c.485C>A (p.Thr162Asn) rs766718491 0.00003
NM_000379.4(XDH):c.698G>T (p.Arg233Leu) rs201194179 0.00003
NM_000379.4(XDH):c.816T>C (p.Asn272=) rs770338067 0.00003
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.545A>G (p.Asn182Ser) rs770109772 0.00002
NM_000379.4(XDH):c.786G>A (p.Thr262=) rs201436175 0.00002
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.2274del (p.Glu760fs) rs760186813 0.00001
NM_000379.4(XDH):c.2299A>G (p.Thr767Ala) rs367726228 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.3519+13C>G rs923415065 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.682C>T (p.Arg228Ter) rs119460972 0.00001
NM_000379.4(XDH):c.826C>T (p.Pro276Ser) rs1442917442 0.00001
NM_000379.4(XDH):c.1038G>A (p.Ala346=) rs557992688
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.2187TGT[1] (p.Val731del) rs760761330
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.3206C>G (p.Thr1069Ser) rs1685335731
NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe) rs375290824
NM_000379.4(XDH):c.641del (p.Pro214fs) rs778685046
NM_000379.4(XDH):c.775G>A (p.Val259Met) rs373279221

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