ClinVar Miner

List of variants studied for Familial juvenile hyperuricemic nephropathy type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.522C>T (p.Cys174=) rs7193058 0.69325
NM_003361.4(UMOD):c.792G>A (p.Val264=) rs13335818 0.15554
NM_003361.4(UMOD):c.885G>A (p.Gly295=) rs28544423 0.15053
NM_003361.4(UMOD):c.-47T>C rs75645968 0.03162
NM_003361.4(UMOD):c.264C>T (p.Gly88=) rs77875418 0.02558
NM_003361.4(UMOD):c.*104C>T rs111699931 0.02416
NM_003361.4(UMOD):c.*130C>T rs113468667 0.01630
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_003361.4(UMOD):c.-56G>A rs79245268 0.00692
NM_003361.4(UMOD):c.1740+18C>T rs113452476 0.00381
NM_003361.4(UMOD):c.1353C>G (p.Gly451=) rs111904030 0.00378
NM_003361.4(UMOD):c.1062C>T (p.Phe354=) rs78613713 0.00362
NM_003361.3(UMOD):c.-159G>A rs138793302 0.00187
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp) rs139607138 0.00146
NM_003361.4(UMOD):c.425G>A (p.Arg142Gln) rs199835347 0.00083
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003361.4(UMOD):c.1464C>T (p.Gly488=) rs141912637 0.00049
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro) rs143248111 0.00032
NM_003361.4(UMOD):c.1124G>A (p.Arg375Gln) rs151061376 0.00021
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn) rs143641292 0.00020
NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser) rs145165861 0.00016
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln) rs387907549 0.00014
NM_003361.4(UMOD):c.504C>T (p.Leu168=) rs369454700 0.00014
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile) rs188709583 0.00013
NM_003361.4(UMOD):c.599G>A (p.Arg200His) rs940287917 0.00013
NM_003361.4(UMOD):c.1383G>A (p.Ala461=) rs147222401 0.00011
NM_003361.4(UMOD):c.430G>A (p.Asp144Asn) rs769398465 0.00009
NM_003361.4(UMOD):c.1288G>A (p.Asp430Asn) rs200394184 0.00008
NM_003361.4(UMOD):c.990G>A (p.Glu330=) rs200665026 0.00008
NM_003361.4(UMOD):c.1623G>T (p.Gly541=) rs562726925 0.00006
NM_003361.4(UMOD):c.974-15C>G rs201798915 0.00006
NM_003361.4(UMOD):c.*88G>A rs547514548 0.00004
NM_003361.4(UMOD):c.1177T>C (p.Leu393=) rs748849021 0.00004
NM_003361.4(UMOD):c.1362C>A (p.Gly454=) rs770875763 0.00004
NM_003361.4(UMOD):c.1376G>A (p.Arg459Gln) rs201761378 0.00004
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp) rs368943553 0.00004
NM_003361.4(UMOD):c.685A>T (p.Met229Leu) rs756226236 0.00004
NM_003361.4(UMOD):c.875C>A (p.Ser292Tyr) rs147199402 0.00004
NM_003361.4(UMOD):c.*59G>A rs886051783 0.00003
NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys) rs758221597 0.00003
NM_003361.4(UMOD):c.1360G>A (p.Gly454Ser) rs774173431 0.00002
NM_003361.4(UMOD):c.1459G>A (p.Val487Met) rs375158769 0.00002
NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln) rs780358900 0.00002
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu) rs200473249 0.00002
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) rs751927256 0.00002
NM_003361.4(UMOD):c.1919A>G (p.Gln640Arg) rs776685236 0.00002
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp) rs760253448 0.00002
NM_003361.4(UMOD):c.*262C>G rs1422710573 0.00001
NM_003361.4(UMOD):c.*39C>T rs770789937 0.00001
NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp) rs373609971 0.00001
NM_003361.4(UMOD):c.1131G>C (p.Trp377Cys) rs201738891 0.00001
NM_003361.4(UMOD):c.1390C>T (p.Gln464Ter) rs373412017 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.472G>A (p.Gly158Arg) rs1239315488 0.00001
NM_003361.4(UMOD):c.808G>A (p.Gly270Ser) rs781101544 0.00001
NM_003361.4(UMOD):c.*226_*229del rs886051782
NM_003361.4(UMOD):c.*231A>G rs886051781
NM_003361.4(UMOD):c.-14del rs764637746
NM_003361.4(UMOD):c.-57C>T rs767217667
NM_003361.4(UMOD):c.1009G>A (p.Ala337Thr)
NM_003361.4(UMOD):c.102A>C (p.Glu34Asp)
NM_003361.4(UMOD):c.1063G>A (p.Asp355Asn)
NM_003361.4(UMOD):c.1069G>T (p.Val357Phe)
NM_003361.4(UMOD):c.106C>T (p.His36Tyr)
NM_003361.4(UMOD):c.1081C>A (p.Leu361Met)
NM_003361.4(UMOD):c.1093C>T (p.Arg365Trp)
NM_003361.4(UMOD):c.1094G>A (p.Arg365Gln)
NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp) rs138178893
NM_003361.4(UMOD):c.1148C>T (p.Pro383Leu)
NM_003361.4(UMOD):c.114T>C (p.Asn38=) rs766555124
NM_003361.4(UMOD):c.115G>C (p.Ala39Pro) rs1245943973
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp) rs762973149
NM_003361.4(UMOD):c.1182+10G>A
NM_003361.4(UMOD):c.1182+5G>A
NM_003361.4(UMOD):c.1182+5G>T rs755374625
NM_003361.4(UMOD):c.1183-15del
NM_003361.4(UMOD):c.1183-3C>A
NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)
NM_003361.4(UMOD):c.1195del (p.His399fs) rs780493255
NM_003361.4(UMOD):c.1196A>G (p.His399Arg) rs1596552335
NM_003361.4(UMOD):c.1198G>A (p.Ala400Thr)
NM_003361.4(UMOD):c.1198G>T (p.Ala400Ser)
NM_003361.4(UMOD):c.1217T>A (p.Leu406His)
NM_003361.4(UMOD):c.125C>T (p.Thr42Met)
NM_003361.4(UMOD):c.1271C>T (p.Ala424Val)
NM_003361.4(UMOD):c.1285dup (p.Leu429fs)
NM_003361.4(UMOD):c.1312G>T (p.Ala438Ser)
NM_003361.4(UMOD):c.1316T>C (p.Leu439Pro)
NM_003361.4(UMOD):c.1320G>T (p.Gln440His)
NM_003361.4(UMOD):c.1331+7C>T
NM_003361.4(UMOD):c.1332T>A (p.Ser444Arg)
NM_003361.4(UMOD):c.1351G>A (p.Gly451Ser)
NM_003361.4(UMOD):c.1352G>A (p.Gly451Asp)
NM_003361.4(UMOD):c.1364T>G (p.Met455Arg)
NM_003361.4(UMOD):c.1372G>A (p.Val458Met)
NM_003361.4(UMOD):c.1372G>T (p.Val458Leu) rs55772253
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.1383G>C (p.Ala461=)
NM_003361.4(UMOD):c.1391del (p.Gln464fs)
NM_003361.4(UMOD):c.139G>A (p.Val47Ile) rs917737950
NM_003361.4(UMOD):c.1402T>C (p.Tyr468His)
NM_003361.4(UMOD):c.1406C>A (p.Thr469Lys)
NM_003361.4(UMOD):c.1411C>G (p.Pro471Ala)
NM_003361.4(UMOD):c.1429G>A (p.Val477Met)
NM_003361.4(UMOD):c.1445A>T (p.Glu482Val)
NM_003361.4(UMOD):c.1458C>A (p.Tyr486Ter)
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp) rs1555486021
NM_003361.4(UMOD):c.1469T>C (p.Met490Thr)
NM_003361.4(UMOD):c.146C>T (p.Thr49Met)
NM_003361.4(UMOD):c.1475A>G (p.Asp492Gly)
NM_003361.4(UMOD):c.148T>A (p.Cys50Ser) rs2141677149
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)
NM_003361.4(UMOD):c.1499C>T (p.Ala500Val)
NM_003361.4(UMOD):c.1507A>C (p.Met503Leu)
NM_003361.4(UMOD):c.150C>G (p.Cys50Trp) rs1965764292
NM_003361.4(UMOD):c.151A>C (p.Thr51Pro)
NM_003361.4(UMOD):c.1520A>G (p.Tyr507Cys) rs1965189208
NM_003361.4(UMOD):c.152C>A (p.Thr51Asn)
NM_003361.4(UMOD):c.1544C>T (p.Thr515Met)
NM_003361.4(UMOD):c.154T>G (p.Cys52Gly)
NM_003361.4(UMOD):c.1550C>A (p.Pro517His)
NM_003361.4(UMOD):c.1552C>T (p.Leu518=)
NM_003361.4(UMOD):c.1561T>C (p.Phe521Leu)
NM_003361.4(UMOD):c.1570C>T (p.Gln524Ter)
NM_003361.4(UMOD):c.1577+11G>A rs184055420
NM_003361.4(UMOD):c.1592G>C (p.Arg531Thr)
NM_003361.4(UMOD):c.1612G>A (p.Val538Met)
NM_003361.4(UMOD):c.165C>T (p.Gly55=) rs1478057939
NM_003361.4(UMOD):c.1672A>G (p.Asn558Asp)
NM_003361.4(UMOD):c.1691T>A (p.Leu564Gln)
NM_003361.4(UMOD):c.1699G>A (p.Glu567Lys)
NM_003361.4(UMOD):c.1701_1715del (p.Glu567_Cys571del)
NM_003361.4(UMOD):c.172G>A (p.Gly58Ser)
NM_003361.4(UMOD):c.172G>T (p.Gly58Cys)
NM_003361.4(UMOD):c.1737G>C (p.Lys579Asn)
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)
NM_003361.4(UMOD):c.176A>G (p.Asp59Gly)
NM_003361.4(UMOD):c.1772G>T (p.Ser591Ile)
NM_003361.4(UMOD):c.1780G>A (p.Asp594Asn)
NM_003361.4(UMOD):c.1789C>T (p.Arg597Cys)
NM_003361.4(UMOD):c.1807C>T (p.Pro603Ser)
NM_003361.4(UMOD):c.1811T>G (p.Ile604Ser)
NM_003361.4(UMOD):c.1816C>T (p.Arg606Trp)
NM_003361.4(UMOD):c.1837G>A (p.Val613Ile)
NM_003361.4(UMOD):c.1859dup (p.Leu620fs) rs886051784
NM_003361.4(UMOD):c.188G>C (p.Cys63Ser)
NM_003361.4(UMOD):c.189C>G (p.Cys63Trp) rs1199326518
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.19A>G (p.Thr7Ala)
NM_003361.4(UMOD):c.200A>G (p.Asp67Gly)
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys) rs1965761636
NM_003361.4(UMOD):c.203A>T (p.Glu68Val) rs2141676976
NM_003361.4(UMOD):c.207C>A (p.Cys69Ter)
NM_003361.4(UMOD):c.208G>A (p.Ala70Thr)
NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr) rs121917768
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser) rs121917768
NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)
NM_003361.4(UMOD):c.248G>T (p.Cys83Phe)
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
NM_003361.4(UMOD):c.272C>T (p.Ser91Phe)
NM_003361.4(UMOD):c.272_274del (p.Ser91del) rs1965755740
NM_003361.4(UMOD):c.276C>G (p.Cys92Trp)
NM_003361.4(UMOD):c.278T>C (p.Val93Ala) rs2141676565
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg) rs2141676543
NM_003361.4(UMOD):c.280T>G (p.Cys94Gly) rs2141676543
NM_003361.4(UMOD):c.281G>C (p.Cys94Ser) rs2141676533
NM_003361.4(UMOD):c.283C>T (p.Pro95Ser) rs2141676523
NM_003361.4(UMOD):c.286G>A (p.Glu96Lys)
NM_003361.4(UMOD):c.286G>T (p.Glu96Ter) rs1357689052
NM_003361.4(UMOD):c.287_289del (p.Glu96del) rs2141676487
NM_003361.4(UMOD):c.302C>A (p.Ser101Ter)
NM_003361.4(UMOD):c.306del (p.Gly103fs)
NM_003361.4(UMOD):c.307G>A (p.Gly103Ser)
NM_003361.4(UMOD):c.307G>T (p.Gly103Cys) rs28934584
NM_003361.4(UMOD):c.313G>T (p.Gly105Cys) rs747592262
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr) rs2141676232
NM_003361.4(UMOD):c.343C>A (p.Pro115Thr)
NM_003361.4(UMOD):c.346G>A (p.Gly116Arg)
NM_003361.4(UMOD):c.358T>C (p.Cys120Arg)
NM_003361.4(UMOD):c.358T>G (p.Cys120Gly) rs1555487621
NM_003361.4(UMOD):c.359G>A (p.Cys120Tyr)
NM_003361.4(UMOD):c.359G>T (p.Cys120Phe)
NM_003361.4(UMOD):c.361C>T (p.His121Tyr)
NM_003361.4(UMOD):c.374C>A (p.Thr125Lys)
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg) rs121917769
NM_003361.4(UMOD):c.382_383insT (p.Asn128fs)
NM_003361.4(UMOD):c.383A>G (p.Asn128Ser) rs121917770
NM_003361.4(UMOD):c.389T>C (p.Val130Ala)
NM_003361.4(UMOD):c.404G>T (p.Cys135Phe)
NM_003361.4(UMOD):c.424C>T (p.Arg142Trp)
NM_003361.4(UMOD):c.425G>T (p.Arg142Leu)
NM_003361.4(UMOD):c.443G>A (p.Cys148Tyr) rs28934582
NM_003361.4(UMOD):c.444T>G (p.Cys148Trp) rs1965741911
NM_003361.4(UMOD):c.452C>A (p.Ser151Tyr)
NM_003361.4(UMOD):c.464G>C (p.Cys155Ser)
NM_003361.4(UMOD):c.466G>A (p.Gly156Arg)
NM_003361.4(UMOD):c.480C>T (p.Asp160=) rs1965738932
NM_003361.4(UMOD):c.481T>C (p.Cys161Arg)
NM_003361.4(UMOD):c.490G>T (p.Glu164Ter) rs1057515585
NM_003361.4(UMOD):c.503T>C (p.Leu168Pro) rs2141675428
NM_003361.4(UMOD):c.505G>A (p.Val169Met)
NM_003361.4(UMOD):c.508T>C (p.Cys170Arg)
NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)
NM_003361.4(UMOD):c.527C>A (p.Ala176Glu)
NM_003361.4(UMOD):c.529C>T (p.His177Tyr)
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.533G>T (p.Arg178Leu)
NM_003361.4(UMOD):c.539T>C (p.Leu180Pro) rs794727496
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_003361.4(UMOD):c.552G>C (p.Trp184Cys) rs1965732404
NM_003361.4(UMOD):c.553C>G (p.Arg185Gly)
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys) rs1567310155
NM_003361.4(UMOD):c.554G>C (p.Arg185Pro)
NM_003361.4(UMOD):c.555C>T (p.Arg185=) rs866510195
NM_003361.4(UMOD):c.566A>T (p.Tyr189Phe)
NM_003361.4(UMOD):c.567C>G (p.Tyr189Ter)
NM_003361.4(UMOD):c.583T>C (p.Cys195Arg)
NM_003361.4(UMOD):c.585_586delinsGA (p.Cys195_Asp196delinsTrpAsn)
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn) rs1965729129
NM_003361.4(UMOD):c.587A>G (p.Asp196Gly) rs1060499657
NM_003361.4(UMOD):c.601G>T (p.Gly201Cys)
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.610C>T (p.Arg204Cys)
NM_003361.4(UMOD):c.611G>A (p.Arg204His)
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003361.4(UMOD):c.628G>T (p.Gly210Cys)
NM_003361.4(UMOD):c.637A>C (p.Met213Leu)
NM_003361.4(UMOD):c.637A>G (p.Met213Val)
NM_003361.4(UMOD):c.643G>A (p.Glu215Lys)
NM_003361.4(UMOD):c.649T>C (p.Cys217Arg) rs28934583
NM_003361.4(UMOD):c.649T>G (p.Cys217Gly) rs28934583
NM_003361.4(UMOD):c.651C>G (p.Cys217Trp) rs1596561934
NM_003361.4(UMOD):c.667T>A (p.Cys223Ser)
NM_003361.4(UMOD):c.688T>A (p.Trp230Arg)
NM_003361.4(UMOD):c.688T>C (p.Trp230Arg)
NM_003361.4(UMOD):c.707C>G (p.Pro236Arg)
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.713G>C (p.Ser238Thr)
NM_003361.4(UMOD):c.725T>A (p.Ile242Asn)
NM_003361.4(UMOD):c.732C>G (p.Ser244Arg)
NM_003361.4(UMOD):c.733C>T (p.Arg245Cys)
NM_003361.4(UMOD):c.734G>A (p.Arg245His)
NM_003361.4(UMOD):c.742T>C (p.Cys248Arg) rs1965716874
NM_003361.4(UMOD):c.743G>C (p.Cys248Ser) rs398122388
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp) rs886043751
NM_003361.4(UMOD):c.745_746delinsTT (p.Ala249Leu)
NM_003361.4(UMOD):c.74A>T (p.Asp25Val)
NM_003361.4(UMOD):c.764G>A (p.Cys255Tyr) rs121917771
NM_003361.4(UMOD):c.767G>C (p.Cys256Ser)
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582
NM_003361.4(UMOD):c.77C>T (p.Thr26Ile) rs769806862
NM_003361.4(UMOD):c.799T>C (p.Cys267Arg)
NM_003361.4(UMOD):c.800G>T (p.Cys267Phe) rs2141674031
NM_003361.4(UMOD):c.806G>T (p.Gly269Val)
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys) rs781101544
NM_003361.4(UMOD):c.812A>G (p.Tyr271Cys)
NM_003361.4(UMOD):c.817G>T (p.Val273Phe) rs121917774
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu) rs766919534
NM_003361.4(UMOD):c.859T>C (p.Cys287Arg)
NM_003361.4(UMOD):c.860G>A (p.Cys287Tyr)
NM_003361.4(UMOD):c.865+11G>T
NM_003361.4(UMOD):c.865+7C>G rs759063012
NM_003361.4(UMOD):c.867C>A (p.Asp289Glu)
NM_003361.4(UMOD):c.873C>G (p.Ser291Arg)
NM_003361.4(UMOD):c.88+2T>C
NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr) rs1596560944
NM_003361.4(UMOD):c.891T>G (p.Cys297Trp)
NM_003361.4(UMOD):c.895G>A (p.Glu299Lys) rs1965696937
NM_003361.4(UMOD):c.898T>G (p.Cys300Gly) rs121917772
NM_003361.4(UMOD):c.909C>A (p.Asp303Glu)
NM_003361.4(UMOD):c.913G>A (p.Asp305Asn)
NM_003361.4(UMOD):c.917G>A (p.Cys306Tyr)
NM_003361.4(UMOD):c.93G>C (p.Trp31Cys)
NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)
NM_003361.4(UMOD):c.943T>C (p.Cys315Arg) rs121917773
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro) rs1555487318
NM_003361.4(UMOD):c.947A>T (p.Gln316Leu)
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316
NM_003361.4(UMOD):c.951C>A (p.Cys317Ter)
NM_003361.4(UMOD):c.952A>C (p.Lys318Gln)
NM_003361.4(UMOD):c.97T>C (p.Ser33Pro)
NM_003361.4(UMOD):c.998T>C (p.Leu333Pro) rs1965583936
NM_006548.6(IGF2BP2):c.1718G>T (p.Arg573Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.