ClinVar Miner

List of variants in gene UMOD studied for cystic kidney disease

Included ClinVar conditions (50):
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Gene type:
ClinVar version:
Total variants: 163
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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.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.106C>T (p.His36Tyr)
NM_003361.4(UMOD):c.1093C>T (p.Arg365Trp)
NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp) rs138178893
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+5G>T rs755374625
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.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.139G>A (p.Val47Ile) rs917737950
NM_003361.4(UMOD):c.1445A>T (p.Glu482Val)
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.148T>A (p.Cys50Ser) rs2141677149
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)
NM_003361.4(UMOD):c.150C>G (p.Cys50Trp) rs1965764292
NM_003361.4(UMOD):c.1520A>G (p.Tyr507Cys) rs1965189208
NM_003361.4(UMOD):c.1577+11G>A rs184055420
NM_003361.4(UMOD):c.165C>T (p.Gly55=) rs1478057939
NM_003361.4(UMOD):c.172G>A (p.Gly58Ser)
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)
NM_003361.4(UMOD):c.176A>G (p.Asp59Gly)
NM_003361.4(UMOD):c.1859dup (p.Leu620fs) rs886051784
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.202G>A (p.Glu68Lys) rs1965761636
NM_003361.4(UMOD):c.203A>T (p.Glu68Val) rs2141676976
NM_003361.4(UMOD):c.208G>A (p.Ala70Thr)
NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr) rs121917768
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
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>T (p.Glu96Ter) rs1357689052
NM_003361.4(UMOD):c.287_289del (p.Glu96del) rs2141676487
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.358T>G (p.Cys120Gly) rs1555487621
NM_003361.4(UMOD):c.359G>A (p.Cys120Tyr)
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.411C>G (p.Cys137Trp) rs1197633531
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.480C>T (p.Asp160=) rs1965738932
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.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.539T>C (p.Leu180Pro) rs794727496
NM_003361.4(UMOD):c.544G>A (p.Glu182Lys)
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>T (p.Arg185Cys) rs1567310155
NM_003361.4(UMOD):c.555C>T (p.Arg185=) rs866510195
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.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.610C>T (p.Arg204Cys)
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.688T>A (p.Trp230Arg)
NM_003361.4(UMOD):c.698G>T (p.Gly233Val) rs1965720354
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.725T>A (p.Ile242Asn)
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.764G>A (p.Cys255Tyr) rs121917771
NM_003361.4(UMOD):c.768C>G (p.Cys256Trp) rs774838407
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.808G>T (p.Gly270Cys) rs781101544
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.865+7C>G rs759063012
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr) rs1596560944
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.93G>C (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.949T>G (p.Cys317Gly) rs1555487316
NM_003361.4(UMOD):c.998T>C (p.Leu333Pro) rs1965583936

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