ClinVar Miner

List of variants in gene EPM2A studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 193
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156 0.00057
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_005670.4(EPM2A):c.718+19C>G rs370750611 0.00040
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344 0.00029
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576 0.00025
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651 0.00015
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) rs200641543 0.00014
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) rs61757376 0.00012
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val) rs199856913 0.00011
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191 0.00011
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005 0.00011
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser) rs141975071 0.00010
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser) rs753867771 0.00006
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His) rs1393744393 0.00006
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys) rs781291421 0.00006
NM_005670.4(EPM2A):c.984G>T (p.Val328=) rs200996083 0.00006
NM_005670.4(EPM2A):c.348C>T (p.Asn116=) rs760860945 0.00004
NM_005670.4(EPM2A):c.476+7A>G rs756197281 0.00004
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu) rs148475381 0.00004
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg) rs763098296 0.00004
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr) rs755742563 0.00004
NM_005670.4(EPM2A):c.918C>T (p.Asp306=) rs375436219 0.00004
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr) rs780826386 0.00004
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp) rs376750373 0.00003
NM_005670.4(EPM2A):c.441T>C (p.Phe147=) rs965931486 0.00003
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg) rs796052423 0.00003
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr) rs748048885 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val) rs138798058 0.00003
NM_005670.4(EPM2A):c.762G>A (p.Ala254=) rs199586710 0.00003
NM_005670.4(EPM2A):c.801C>T (p.Asn267=) rs181746165 0.00003
NM_005670.4(EPM2A):c.807G>A (p.Gly269=) rs755516128 0.00003
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) rs958366800 0.00003
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys) rs754779408 0.00003
NM_005670.4(EPM2A):c.936G>A (p.Arg312=) rs773315475 0.00003
NM_005670.4(EPM2A):c.302-12T>C rs771456156 0.00002
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649 0.00002
NM_005670.4(EPM2A):c.352G>A (p.Val118Met) rs903313803 0.00002
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430 0.00002
NM_005670.4(EPM2A):c.477-13A>G rs778452911 0.00002
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp) rs777767978 0.00002
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu) rs367827948 0.00002
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170 0.00002
NM_005670.4(EPM2A):c.715G>A (p.Glu239Lys) rs373652439 0.00002
NM_005670.4(EPM2A):c.768G>A (p.Leu256=) rs753561820 0.00002
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr) rs748514820 0.00002
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387 0.00002
NM_005670.4(EPM2A):c.924G>A (p.Glu308=) rs1439211009 0.00002
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp) rs766334722 0.00002
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser) rs1448945231 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) rs202234583 0.00001
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser) rs1480939817 0.00001
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys) rs757199020 0.00001
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala) rs773728573 0.00001
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala) rs144204777 0.00001
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe) rs1780893400 0.00001
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val) rs753781421 0.00001
NM_005670.4(EPM2A):c.477-14T>C rs914299630 0.00001
NM_005670.4(EPM2A):c.477-15A>G rs542654431 0.00001
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val) rs147645370 0.00001
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys) rs371974399 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627 0.00001
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys) rs191406622 0.00001
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) rs142658692 0.00001
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys) rs186710183 0.00001
NM_005670.4(EPM2A):c.666G>A (p.Arg222=) rs762189100 0.00001
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val) rs754313309 0.00001
NM_005670.4(EPM2A):c.714C>T (p.Thr238=) rs762653955 0.00001
NM_005670.4(EPM2A):c.719-2A>T rs772082648 0.00001
NM_005670.4(EPM2A):c.719-5C>T rs768538455 0.00001
NM_005670.4(EPM2A):c.726A>G (p.Val242=) rs1485448690 0.00001
NM_005670.4(EPM2A):c.744G>A (p.Ala248=) rs538717552 0.00001
NM_005670.4(EPM2A):c.774G>A (p.Lys258=) rs1014840416 0.00001
NM_005670.4(EPM2A):c.813C>T (p.Gly271=) rs1162902926 0.00001
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys) rs765820100 0.00001
NM_005670.4(EPM2A):c.822C>T (p.Thr274=) rs763812238 0.00001
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val) rs1027738243 0.00001
NM_005670.4(EPM2A):c.834C>T (p.Cys278=) rs759427349 0.00001
NM_005670.4(EPM2A):c.927C>G (p.Ala309=) rs1181128980 0.00001
NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln) rs762852066 0.00001
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr) rs189479757 0.00001
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe) rs941854726 0.00001
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys) rs746413047 0.00001
NM_005670.4(EPM2A):c.974G>A (p.Arg325His) rs777308612 0.00001
NC_000006.11:g.(?_145948552)_(145956642_?)del
NC_000006.11:g.(?_146056334)_(146056634_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NM_005670.4(EPM2A):c.302-17A>G rs1286332017
NM_005670.4(EPM2A):c.302-20A>T rs779211684
NM_005670.4(EPM2A):c.302-2A>G rs780648601
NM_005670.4(EPM2A):c.302-4C>T rs1780908908
NM_005670.4(EPM2A):c.302-7G>A rs1780909090
NM_005670.4(EPM2A):c.314A>G (p.His105Arg) rs1554263366
NM_005670.4(EPM2A):c.322del (p.Arg108fs) rs2128614455
NM_005670.4(EPM2A):c.333T>C (p.Thr111=) rs1780905564
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
NM_005670.4(EPM2A):c.360T>C (p.Gly120=) rs2128614372
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) rs1780901751
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser) rs1054138980
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala) rs746523076
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala)
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met) rs2128614175
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp) rs1173939028
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr) rs1199898061
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs) rs1554263320
NM_005670.4(EPM2A):c.476+19T>G
NM_005670.4(EPM2A):c.476+5A>G rs1780888090
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
NM_005670.4(EPM2A):c.477-19C>T
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg) rs1776588836
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg) rs1776588357
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
NM_005670.4(EPM2A):c.525T>C (p.His175=) rs2128562729
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro) rs1490039469
NM_005670.4(EPM2A):c.546T>C (p.His182=) rs1776583674
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg) rs1582935082
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile) rs1582935082
NM_005670.4(EPM2A):c.564T>G (p.Ala188=) rs1342189516
NM_005670.4(EPM2A):c.568A>G (p.Met190Val)
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser) rs2128562619
NM_005670.4(EPM2A):c.603T>C (p.Asn201=) rs748995485
NM_005670.4(EPM2A):c.634A>G (p.Met212Val) rs1562424241
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile) rs1776570738
NM_005670.4(EPM2A):c.639T>C (p.Thr213=)
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr) rs1554256996
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala) rs1278542056
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile) rs2128562483
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln) rs1554256976
NM_005670.4(EPM2A):c.706A>G (p.Met236Val) rs906096146
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr) rs1776560298
NM_005670.4(EPM2A):c.714C>G (p.Thr238=) rs762653955
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)
NM_005670.4(EPM2A):c.719-15C>T
NM_005670.4(EPM2A):c.719-8del
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly) rs104893950
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg) rs749563452
NM_005670.4(EPM2A):c.745G>A (p.Val249Met) rs1387516050
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.758A>G (p.His253Arg) rs749937487
NM_005670.4(EPM2A):c.758A>T (p.His253Leu) rs749937487
NM_005670.4(EPM2A):c.759T>C (p.His253=) rs1775923559
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs) rs1775923311
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro) rs2128556216
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly) rs1351520468
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
NM_005670.4(EPM2A):c.784G>A (p.Val262Met) rs1582913143
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
NM_005670.4(EPM2A):c.794A>G (p.His265Arg) rs201053542
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser) rs778069029
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser) rs1220880720
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) rs137852917
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe) rs367551823
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
NM_005670.4(EPM2A):c.876G>T (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.894C>T (p.Ala298=) rs1775904922
NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr) rs1050606699
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu) rs796052428
NM_005670.4(EPM2A):c.903G>A (p.Pro301=) rs141361861
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)
NM_005670.4(EPM2A):c.934dup (p.Arg312fs) rs2128555980
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys) rs772620616
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe) rs1404589826
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro) rs768781694
NM_005670.4(EPM2A):c.981T>G (p.Ser327=) rs2128555915
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)

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.