ClinVar Miner

List of variants studied for Familial juvenile hyperuricemic nephropathy type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 166
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HGVS dbSNP gnomAD frequency
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_003361.4(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.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.1362C>A (p.Gly454=) rs770875763 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.1243C>T (p.Arg415Cys) rs758221597 0.00003
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.758G>A (p.Gly253Asp) rs760253448 0.00002
NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp) rs373609971 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.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.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.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.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.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.1383G>C (p.Ala461=)
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.1458C>A (p.Tyr486Ter)
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.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.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.1570C>T (p.Gln524Ter)
NM_003361.4(UMOD):c.1577+11G>A rs184055420
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.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.188G>C (p.Cys63Ser)
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.230G>C (p.Cys77Ser) rs121917768
NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)
NM_003361.4(UMOD):c.272C>T (p.Ser91Phe)
NM_003361.4(UMOD):c.272_274del (p.Ser91del) rs1965755740
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.286G>A (p.Glu96Lys)
NM_003361.4(UMOD):c.302C>A (p.Ser101Ter)
NM_003361.4(UMOD):c.307G>A (p.Gly103Ser)
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.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.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.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.481T>C (p.Cys161Arg)
NM_003361.4(UMOD):c.505G>A (p.Val169Met)
NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)
NM_003361.4(UMOD):c.527C>A (p.Ala176Glu)
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.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.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.611G>A (p.Arg204His)
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
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.688T>C (p.Trp230Arg)
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.713G>C (p.Ser238Thr)
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.745_746delinsTT (p.Ala249Leu)
NM_003361.4(UMOD):c.74A>T (p.Asp25Val)
NM_003361.4(UMOD):c.806G>T (p.Gly269Val)
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.860G>A (p.Cys287Tyr)
NM_003361.4(UMOD):c.865+11G>T
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.909C>A (p.Asp303Glu)
NM_003361.4(UMOD):c.913G>A (p.Asp305Asn)
NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)
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)

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