ClinVar Miner

List of variants in gene EPG5 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.*270G>A rs114523378 0.01688
NM_020964.3(EPG5):c.7226+95A>T rs9961926 0.01686
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.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.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.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.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
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.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.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.151C>G (p.Leu51Val) rs188069373 0.00014
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104 0.00012
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194 0.00007
NM_020964.3(EPG5):c.1857A>T (p.Ser619=) rs543352996 0.00005
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.2772T>C (p.Leu924=) rs891935086 0.00001
NM_020964.3(EPG5):c.*163GT[11] rs112643058
NM_020964.3(EPG5):c.*166T>G
NM_020964.3(EPG5):c.1009-313C>T rs141711267
NM_020964.3(EPG5):c.1792+73C>T rs1005225312
NM_020964.3(EPG5):c.1944-52G>A rs79875128
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.3342C>G (p.Ala1114=) rs1599565896
NM_020964.3(EPG5):c.3384+45del rs145864065
NM_020964.3(EPG5):c.3999T>C (p.Gly1333=) rs769635657
NM_020964.3(EPG5):c.4329+19dup rs542412749
NM_020964.3(EPG5):c.4474+34_4474+37dup rs146498284
NM_020964.3(EPG5):c.4527C>T (p.Pro1509=)
NM_020964.3(EPG5):c.4582T>C (p.Leu1528=) rs1599529261
NM_020964.3(EPG5):c.4953-201A>G rs116136727
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.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.63+189C>G rs116758961
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.7009+169_7009+170del rs201868961
NM_020964.3(EPG5):c.7442+7A>C rs1599424279

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.