ClinVar Miner

List of variants in gene UMOD reported as uncertain significance for Familial juvenile hyperuricemic nephropathy type 1

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Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln) rs387907549 0.00014
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.*88G>A rs547514548 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.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.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.-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.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.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.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.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.1469T>C (p.Met490Thr)
NM_003361.4(UMOD):c.146C>T (p.Thr49Met)
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.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.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.1592G>C (p.Arg531Thr)
NM_003361.4(UMOD):c.1612G>A (p.Val538Met)
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.1737G>C (p.Lys579Asn)
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.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.207C>A (p.Cys69Ter)
NM_003361.4(UMOD):c.208G>A (p.Ala70Thr)
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
NM_003361.4(UMOD):c.272C>T (p.Ser91Phe)
NM_003361.4(UMOD):c.286G>A (p.Glu96Lys)
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.343C>A (p.Pro115Thr)
NM_003361.4(UMOD):c.346G>A (p.Gly116Arg)
NM_003361.4(UMOD):c.359G>A (p.Cys120Tyr)
NM_003361.4(UMOD):c.361C>T (p.His121Tyr)
NM_003361.4(UMOD):c.374C>A (p.Thr125Lys)
NM_003361.4(UMOD):c.382_383insT (p.Asn128fs)
NM_003361.4(UMOD):c.389T>C (p.Val130Ala)
NM_003361.4(UMOD):c.424C>T (p.Arg142Trp)
NM_003361.4(UMOD):c.425G>T (p.Arg142Leu)
NM_003361.4(UMOD):c.452C>A (p.Ser151Tyr)
NM_003361.4(UMOD):c.466G>A (p.Gly156Arg)
NM_003361.4(UMOD):c.480C>T (p.Asp160=) rs1965738932
NM_003361.4(UMOD):c.505G>A (p.Val169Met)
NM_003361.4(UMOD):c.508T>C (p.Cys170Arg)
NM_003361.4(UMOD):c.527C>A (p.Ala176Glu)
NM_003361.4(UMOD):c.529C>T (p.His177Tyr)
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.566A>T (p.Tyr189Phe)
NM_003361.4(UMOD):c.567C>G (p.Tyr189Ter)
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.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.734G>A (p.Arg245His)
NM_003361.4(UMOD):c.745_746delinsTT (p.Ala249Leu)
NM_003361.4(UMOD):c.74A>T (p.Asp25Val)
NM_003361.4(UMOD):c.77C>T (p.Thr26Ile) rs769806862
NM_003361.4(UMOD):c.799T>C (p.Cys267Arg)
NM_003361.4(UMOD):c.806G>T (p.Gly269Val)
NM_003361.4(UMOD):c.812A>G (p.Tyr271Cys)
NM_003361.4(UMOD):c.859T>C (p.Cys287Arg)
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.895G>A (p.Glu299Lys) rs1965696937
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.947A>T (p.Gln316Leu)
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

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