ClinVar Miner

List of variants in gene EPG5 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
Download table as spreadsheet
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.63+18C>T rs555802868 0.25000
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.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.1497+67G>A rs28395299 0.01678
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.1766A>G (p.Gln589Arg) rs61734402 0.01093
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=) rs114665741 0.00940
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.3493A>G (p.Ile1165Val) rs61744077 0.00541
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.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908 0.00399
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=) rs9965714 0.00369
NM_020964.3(EPG5):c.18G>A (p.Lys6=) rs181345590 0.00354
NM_020964.3(EPG5):c.5653T>C (p.Leu1885=) rs114131140 0.00323
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.2257+10C>T rs202068698 0.00282
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_020964.3(EPG5):c.4629G>A (p.Leu1543=) rs182255496 0.00238
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_020964.3(EPG5):c.2259C>T (p.Asp753=) rs142253896 0.00200
NM_020964.3(EPG5):c.1571+7G>A rs202014798 0.00178
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_020964.3(EPG5):c.780A>G (p.Leu260=) rs186213665 0.00156
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu) rs139209033 0.00133
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=) rs76331338 0.00133
NM_020964.3(EPG5):c.6226-18T>G rs114958790 0.00119
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079 0.00113
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=) rs35073566 0.00088
NM_020964.3(EPG5):c.5869+18C>T rs202231195 0.00077
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=) rs200489622 0.00062
NM_020964.3(EPG5):c.6162G>A (p.Thr2054=) rs368651243 0.00051
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=) rs141282194 0.00048
NM_020964.3(EPG5):c.3391A>G (p.Ile1131Val) rs3744997 0.00043
NM_020964.3(EPG5):c.586G>A (p.Gly196Ser) rs565743896 0.00035
NM_020964.3(EPG5):c.3984-20C>G rs143737072 0.00031
NM_020964.3(EPG5):c.1461C>T (p.Pro487=) rs142675465 0.00029
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val) rs148241618 0.00028
NM_020964.3(EPG5):c.6078C>A (p.Ala2026=) rs368663653 0.00020
NM_020964.3(EPG5):c.7009+20C>T rs367613516 0.00019
NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn) rs554975133 0.00015
NM_020964.3(EPG5):c.7368C>T (p.Leu2456=) rs148229334 0.00015
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met) rs200926094 0.00012
NM_020964.3(EPG5):c.1009-10_1009-9dup rs148293118 0.00011
NM_020964.3(EPG5):c.2374G>A (p.Glu792Lys) rs188738484 0.00009
NM_020964.3(EPG5):c.2233G>A (p.Ala745Thr) rs564487069 0.00005
NM_020964.3(EPG5):c.6939C>T (p.Cys2313=) rs774873040 0.00004
NM_020964.3(EPG5):c.3582+12G>C rs554695413 0.00001
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe) rs199978382 0.00001
NM_001410858.1(EPG5):c.7577T>C (p.Phe2526Ser)
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.1498-17del rs2050838482
NM_020964.3(EPG5):c.1944-16C>T rs575676819
NM_020964.3(EPG5):c.2245C>G (p.Gln749Glu)
NM_020964.3(EPG5):c.2413-15del rs1197236398
NM_020964.3(EPG5):c.2413-7del
NM_020964.3(EPG5):c.2413-7dup
NM_020964.3(EPG5):c.3099-215= rs34399624
NM_020964.3(EPG5):c.3240-283G>A rs9966480
NM_020964.3(EPG5):c.33C>G (p.Ala11=) rs539082493
NM_020964.3(EPG5):c.3551G>A (p.Cys1184Tyr)
NM_020964.3(EPG5):c.3694-310G>A rs9959239
NM_020964.3(EPG5):c.3817-5del
NM_020964.3(EPG5):c.3983+130_3983+133del rs67738770
NM_020964.3(EPG5):c.3984-334AGAT[7] rs537576512
NM_020964.3(EPG5):c.3984-9dup rs1448453433
NM_020964.3(EPG5):c.4329+36_4329+37del rs542412749
NM_020964.3(EPG5):c.4329+37del rs542412749
NM_020964.3(EPG5):c.4646+20C>T rs191567436
NM_020964.3(EPG5):c.5544C>T (p.Pro1848=) rs578073131
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr) rs34977955
NM_020964.3(EPG5):c.6050-47del rs11334955
NM_020964.3(EPG5):c.6050-48_6050-47del rs11334955
NM_020964.3(EPG5):c.6050-63dup rs11334955
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6226-8dup
NM_020964.3(EPG5):c.63+14C>A rs757703100
NM_020964.3(EPG5):c.63+15del rs11301517
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.6622-9_6622-7del rs11333207
NM_020964.3(EPG5):c.6767-255_6767-252del rs140704324
NM_020964.3(EPG5):c.7010-100dup rs139942774

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.