ClinVar Miner

List of variants in gene EPG5 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.2718+146G>C rs4476262 0.83272
NM_020964.3(EPG5):c.4475-238G>A rs1893524 0.83137
NM_020964.3(EPG5):c.5870-172G>A rs7228722 0.79711
NM_020964.3(EPG5):c.7443-86T>G rs514001 0.79647
NM_020964.3(EPG5):c.6621+29A>G rs3826633 0.79509
NM_020964.3(EPG5):c.6412-250G>A rs12961975 0.79475
NM_020964.3(EPG5):c.7227-123G>A rs567801 0.77840
NM_020964.3(EPG5):c.4952+184C>G rs11082494 0.62471
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_020964.3(EPG5):c.3098+117C>A rs1075906 0.46222
NM_020964.3(EPG5):c.2839-162A>G rs11082498 0.36577
NM_020964.3(EPG5):c.1793-35C>T rs3745000 0.30094
NM_020964.3(EPG5):c.2099+125T>C rs8098175 0.29697
NM_020964.3(EPG5):c.*140G>A rs507653 0.29103
NM_020964.3(EPG5):c.4532C>T (p.Ala1511Val) rs1893523 0.25513
NM_020964.3(EPG5):c.3693+212A>T rs60006789 0.25487
NM_020964.3(EPG5):c.4646+35T>C rs3826634 0.21003
NM_020964.3(EPG5):c.4646+190G>T rs12604880 0.20861
NM_020964.3(EPG5):c.4089C>T (p.His1363=) rs3744996 0.20554
NM_020964.3(EPG5):c.2553+35C>T rs9965433 0.19161
NM_020964.3(EPG5):c.3099-311G>A rs1371976 0.17125
NM_020964.3(EPG5):c.2413-70T>C rs73953914 0.15787
NM_020964.3(EPG5):c.2553+228T>C rs73953913 0.15095
NM_020964.3(EPG5):c.3240-216C>T rs62095409 0.14418
NM_020964.3(EPG5):c.*74T>G rs508915 0.14387
NM_020964.3(EPG5):c.6049+126G>A rs9950550 0.14178
NM_020964.3(EPG5):c.6766+238G>A rs12456289 0.13163
NM_020964.3(EPG5):c.6622-92C>G rs8099496 0.13157
NM_020964.3(EPG5):c.6225+181A>G rs7233909 0.13090
NM_020964.3(EPG5):c.1008+317A>G rs58246199 0.12029
NM_020964.3(EPG5):c.544A>G (p.Lys182Glu) rs59422275 0.11994
NM_020964.3(EPG5):c.64-213A>G rs57659207 0.11979
NM_020964.3(EPG5):c.64-323C>T rs74498242 0.11690
NM_020964.3(EPG5):c.5668-184A>G rs9949693 0.10672
NM_020964.3(EPG5):c.1678-60G>T rs75005183 0.10666
NM_020964.3(EPG5):c.7558-11G>A rs57761448 0.10601
NM_020964.3(EPG5):c.1793-209A>C rs72918369 0.10256
NM_020964.3(EPG5):c.1944-104G>A rs72918362 0.10243
NM_020964.3(EPG5):c.1678-213T>C rs72918371 0.10087
NM_020964.3(EPG5):c.1793-294T>C rs61363974 0.09798
NM_020964.3(EPG5):c.3693+60C>A rs7237763 0.09500
NM_020964.3(EPG5):c.1792+273A>T rs142457576 0.09413
NM_020964.3(EPG5):c.1571+220T>C rs72918376 0.09367
NM_020964.3(EPG5):c.6766+322C>T rs78383925 0.06178
NM_020964.3(EPG5):c.5668-302G>C rs144932096 0.05924
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn) rs34064739 0.05283
NM_020964.3(EPG5):c.2532G>C (p.Glu844Asp) rs3744999 0.04674
NM_020964.3(EPG5):c.7227-128C>G rs34455748 0.04589
NM_020964.3(EPG5):c.4330-209A>G rs72918344 0.04365
NM_020964.3(EPG5):c.4329+197G>A rs7242434 0.04114
NM_020964.3(EPG5):c.4205+74A>G rs79523804 0.04027
NM_020964.3(EPG5):c.5110-249G>A rs115533345 0.04026
NM_020964.3(EPG5):c.5109+232C>G rs28698347 0.04014
NM_020964.3(EPG5):c.2413-264G>A rs28438661 0.03765
NM_020964.3(EPG5):c.1572-38A>G rs8090934 0.03463
NM_020964.3(EPG5):c.4329+300T>C rs7242125 0.03459
NM_020964.3(EPG5):c.4646+140T>G rs75052800 0.03455
NM_020964.3(EPG5):c.4329+254A>G rs7243454 0.03454
NM_020964.3(EPG5):c.3694-321T>C rs9959151 0.03453
NM_020964.3(EPG5):c.2553+237C>T rs9965236 0.03313
NM_020964.3(EPG5):c.3099-272C>T rs11873365 0.03307
NM_020964.3(EPG5):c.5943-246A>G rs73953905 0.02584
NM_020964.3(EPG5):c.7558-205C>T rs56671562 0.02560
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu) rs78339727 0.02107
NM_020964.3(EPG5):c.2839-301A>G rs73953912 0.02046
NM_020964.3(EPG5):c.3385-20C>T rs6507647 0.02046
NM_020964.3(EPG5):c.7009+167A>C rs369366486 0.02035
NM_020964.3(EPG5):c.5870-57C>T rs145742289 0.02023
NM_020964.3(EPG5):c.7442+192T>C rs117393635 0.01869
NM_020964.3(EPG5):c.6621+257A>G rs9947795 0.01864
NM_020964.3(EPG5):c.5943-204T>G rs7236728 0.01773
NM_020964.3(EPG5):c.2553+47T>G rs114439881 0.01741
NM_020964.3(EPG5):c.*270G>A rs114523378 0.01688
NM_020964.3(EPG5):c.7226+95A>T rs9961926 0.01686
NM_020964.3(EPG5):c.1497+67G>A rs28395299 0.01678
NM_020964.3(EPG5):c.6225+174C>T rs9948555 0.01657
NM_020964.3(EPG5):c.7442+93G>A rs28605020 0.01489
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01339
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln) rs34674177 0.01298
NM_020964.3(EPG5):c.6049+244C>G rs141432738 0.01277
NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg) rs61734402 0.01093
NM_020964.3(EPG5):c.*164T>G rs187738851 0.01075
NM_020964.3(EPG5):c.5870-272G>A rs7228878 0.00961
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=) rs114665741 0.00940
NM_020964.3(EPG5):c.1793-298C>T rs11876831 0.00933
NM_020964.3(EPG5):c.4810-229G>A rs72918326 0.00896
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=) rs72918350 0.00844
NM_020964.3(EPG5):c.4206-26C>T rs144175319 0.00831
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=) rs148683476 0.00708
NM_020964.3(EPG5):c.1399C>T (p.Leu467=) rs145998030 0.00707
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn) rs145177562 0.00565
NM_020964.3(EPG5):c.7443-14C>T rs150647938 0.00509
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val) rs148777356 0.00488
NM_020964.3(EPG5):c.7558-132C>T rs146977012 0.00426
NM_020964.3(EPG5):c.3984-135A>G rs141858923 0.00412
NM_020964.3(EPG5):c.4205+134T>C rs76515809 0.00410
NM_020964.3(EPG5):c.3694-151G>A rs140981196 0.00406
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_020964.3(EPG5):c.3385-110A>G rs139491623 0.00401
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908 0.00399
NM_020964.3(EPG5):c.6411+24A>G rs114204173 0.00351
NM_020964.3(EPG5):c.1497+191A>G rs75341729 0.00316
NM_020964.3(EPG5):c.5700T>C (p.Phe1900=) rs34545102 0.00308
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_020964.3(EPG5):c.2257+44T>C rs78696159 0.00143
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=) rs76331338 0.00133
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079 0.00113
NM_020964.3(EPG5):c.3079A>G (p.Met1027Val) rs200114829 0.00103
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile) rs200530606 0.00067
NM_020964.3(EPG5):c.5052G>A (p.Thr1684=) rs199648768 0.00065
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=) rs200489622 0.00062
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00053
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe) rs200364337 0.00051
NM_020964.3(EPG5):c.4791C>T (p.Ala1597=) rs368086133 0.00041
NM_020964.3(EPG5):c.4544C>T (p.Thr1515Met) rs199811412 0.00038
NM_020964.3(EPG5):c.3313C>T (p.His1105Tyr) rs200305944 0.00037
NM_020964.3(EPG5):c.2718+3A>G rs374002995 0.00032
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn) rs202038268 0.00030
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile) rs369120436 0.00022
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile) rs377499566 0.00022
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly) rs372382701 0.00022
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys) rs200744548 0.00018
NM_020964.3(EPG5):c.151C>G (p.Leu51Val) rs188069373 0.00014
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile) rs547681142 0.00013
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104 0.00012
NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys) rs374158728 0.00010
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194 0.00007
NM_020964.3(EPG5):c.6512A>G (p.His2171Arg) rs369070714 0.00006
NM_020964.3(EPG5):c.1857A>T (p.Ser619=) rs543352996 0.00005
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) rs183478189 0.00005
NM_020964.3(EPG5):c.3303A>C (p.Gln1101His) rs201545867 0.00005
NM_020964.3(EPG5):c.1531C>G (p.His511Asp) rs762634619 0.00004
NM_020964.3(EPG5):c.340G>A (p.Gly114Arg) rs375017695 0.00004
NM_020964.3(EPG5):c.4444G>A (p.Val1482Met) rs746749336 0.00004
NM_020964.3(EPG5):c.5057G>A (p.Arg1686His) rs375463159 0.00004
NM_020964.3(EPG5):c.6825G>A (p.Met2275Ile) rs768330083 0.00004
NM_020964.3(EPG5):c.150T>G (p.Ser50=) rs368060363 0.00003
NM_020964.3(EPG5):c.1707C>G (p.Leu569=) rs1445665065 0.00003
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter) rs756503608 0.00003
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_020964.3(EPG5):c.3158A>G (p.His1053Arg) rs758172811 0.00002
NM_020964.3(EPG5):c.1418C>T (p.Pro473Leu) rs189145719 0.00001
NM_020964.3(EPG5):c.2239T>C (p.Cys747Arg) rs1443228798 0.00001
NM_020964.3(EPG5):c.2772T>C (p.Leu924=) rs891935086 0.00001
NM_020964.3(EPG5):c.3044C>T (p.Ala1015Val) rs1135402736 0.00001
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile) rs144908324 0.00001
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val) rs775284965 0.00001
NM_020964.3(EPG5):c.4646+2T>C rs1064795606 0.00001
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys) rs780030419 0.00001
NM_020964.3(EPG5):c.5869+1G>A rs748670315 0.00001
NM_020964.3(EPG5):c.6253T>C (p.Phe2085Leu) rs769470632 0.00001
NM_020964.3(EPG5):c.7243G>A (p.Ala2415Thr) rs1274877697 0.00001
NM_020964.3(EPG5):c.*163GT[11] rs112643058
NM_020964.3(EPG5):c.*163GT[13] rs112643058
NM_020964.3(EPG5):c.*163GT[14] rs112643058
NM_020964.3(EPG5):c.*163GT[15] rs112643058
NM_020964.3(EPG5):c.*166T>G
NM_020964.3(EPG5):c.1009-313C>T rs141711267
NM_020964.3(EPG5):c.1152T>C (p.Tyr384=)
NM_020964.3(EPG5):c.1217T>C (p.Val406Ala) rs2143745556
NM_020964.3(EPG5):c.1442del (p.Asn481fs)
NM_020964.3(EPG5):c.1497+1G>T rs886043244
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del) rs1568179586
NM_020964.3(EPG5):c.1726G>T (p.Val576Phe)
NM_020964.3(EPG5):c.1792+73C>T rs1005225312
NM_020964.3(EPG5):c.1944-52G>A rs79875128
NM_020964.3(EPG5):c.1961T>G (p.Val654Gly)
NM_020964.3(EPG5):c.2162G>A (p.Trp721Ter) rs1568168835
NM_020964.3(EPG5):c.2258-878C>T
NM_020964.3(EPG5):c.2413-3T>G
NM_020964.3(EPG5):c.2690A>G (p.Glu897Gly) rs2145782456
NM_020964.3(EPG5):c.2844A>T (p.Ser948=)
NM_020964.3(EPG5):c.291G>C (p.Thr97=)
NM_020964.3(EPG5):c.291G>T (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.3056T>C (p.Ile1019Thr)
NM_020964.3(EPG5):c.3099-215= rs34399624
NM_020964.3(EPG5):c.3130C>A (p.Leu1044Ile)
NM_020964.3(EPG5):c.315A>T (p.Glu105Asp)
NM_020964.3(EPG5):c.31_33delinsACG (p.Ala11Thr) rs1555683798
NM_020964.3(EPG5):c.3200del (p.Leu1067fs)
NM_020964.3(EPG5):c.3239+5G>A rs2145724330
NM_020964.3(EPG5):c.3240-283G>A rs9966480
NM_020964.3(EPG5):c.3342C>G (p.Ala1114=) rs1599565896
NM_020964.3(EPG5):c.3384+45del rs145864065
NM_020964.3(EPG5):c.3406C>T (p.Gln1136Ter)
NM_020964.3(EPG5):c.3556C>G (p.Gln1186Glu)
NM_020964.3(EPG5):c.3607C>T (p.Arg1203Trp) rs764221778
NM_020964.3(EPG5):c.3694-310G>A rs9959239
NM_020964.3(EPG5):c.3917C>T (p.Pro1306Leu)
NM_020964.3(EPG5):c.3919C>T (p.Leu1307Phe) rs765327583
NM_020964.3(EPG5):c.3937C>T (p.Gln1313Ter) rs986592823
NM_020964.3(EPG5):c.3983+130_3983+133del rs67738770
NM_020964.3(EPG5):c.3984-334AGAT[7] rs537576512
NM_020964.3(EPG5):c.3994G>A (p.Asp1332Asn)
NM_020964.3(EPG5):c.3999T>C (p.Gly1333=) rs769635657
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys) rs775481546
NM_020964.3(EPG5):c.4195G>T (p.Glu1399Ter) rs1568145102
NM_020964.3(EPG5):c.4243A>T (p.Asn1415Tyr) rs767091703
NM_020964.3(EPG5):c.4329+19dup rs542412749
NM_020964.3(EPG5):c.4329+36_4329+37del rs542412749
NM_020964.3(EPG5):c.4329+37del rs542412749
NM_020964.3(EPG5):c.4474+34_4474+37dup rs146498284
NM_020964.3(EPG5):c.4501C>T (p.Arg1501Trp) rs370776793
NM_020964.3(EPG5):c.4527C>T (p.Pro1509=)
NM_020964.3(EPG5):c.4582T>C (p.Leu1528=) rs1599529261
NM_020964.3(EPG5):c.4735C>T (p.Gln1579Ter)
NM_020964.3(EPG5):c.4740del (p.Thr1581fs) rs1555671254
NM_020964.3(EPG5):c.4775A>G (p.Lys1592Arg) rs2145575638
NM_020964.3(EPG5):c.4853A>G (p.His1618Arg)
NM_020964.3(EPG5):c.4953-201A>G rs116136727
NM_020964.3(EPG5):c.4956del (p.Ala1652_Leu1653insTer) rs1555668791
NM_020964.3(EPG5):c.5351_5354del (p.Asp1784fs)
NM_020964.3(EPG5):c.5375_5378dup (p.Leu1794fs) rs1555667231
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr) rs34977955
NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser) rs34977955
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.6011T>C (p.Phe2004Ser) rs2145364498
NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs) rs1064795230
NM_020964.3(EPG5):c.6050-47del rs11334955
NM_020964.3(EPG5):c.6050-48_6050-47del rs11334955
NM_020964.3(EPG5):c.6050-63_6050-61dup rs11334955
NM_020964.3(EPG5):c.6050-63_6050-62dup rs11334955
NM_020964.3(EPG5):c.6050-63dup rs11334955
NM_020964.3(EPG5):c.6088C>T (p.His2030Tyr)
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6187C>G (p.Leu2063Val)
NM_020964.3(EPG5):c.63+189C>G rs116758961
NM_020964.3(EPG5):c.6608_6609insTCAG (p.Lys2205fs) rs1568103027
NM_020964.3(EPG5):c.6621+1G>A rs2048757326
NM_020964.3(EPG5):c.6622-23_6622-12dup rs11333207
NM_020964.3(EPG5):c.6622-23_6622-13dup rs11333207
NM_020964.3(EPG5):c.6622-23_6622-18dup rs11333207
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020964.3(EPG5):c.6622-7del rs11333207
NM_020964.3(EPG5):c.6622-8_6622-7del rs11333207
NM_020964.3(EPG5):c.6767-255_6767-252del rs140704324
NM_020964.3(EPG5):c.7009+169_7009+170del rs201868961
NM_020964.3(EPG5):c.7010-100dup rs139942774
NM_020964.3(EPG5):c.7304dup (p.Asn2435fs) rs1568094308
NM_020964.3(EPG5):c.7427C>T (p.Ser2476Leu)
NM_020964.3(EPG5):c.7442+7A>C rs1599424279
NM_020964.3(EPG5):c.748C>G (p.Leu250Val) rs1472761578
NM_020964.3(EPG5):c.772G>T (p.Glu258Ter) rs1555681647
NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln) rs763628666

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