ClinVar Miner

List of variants in gene EPM2A reported as uncertain significance for Progressive myoclonic epilepsy

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
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.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.986G>A (p.Cys329Tyr) rs780826386 0.00004
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp) rs376750373 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.761C>T (p.Ala254Val) rs138798058 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.352G>A (p.Val118Met) rs903313803 0.00002
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430 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.715G>A (p.Glu239Lys) rs373652439 0.00002
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr) rs748514820 0.00002
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp) rs766334722 0.00002
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser) rs1448945231 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.496C>G (p.Leu166Val) rs147645370 0.00001
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys) rs371974399 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.676T>G (p.Leu226Val) rs754313309 0.00001
NM_005670.4(EPM2A):c.719-2A>T rs772082648 0.00001
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys) rs765820100 0.00001
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val) rs1027738243 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
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
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.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.476+5A>G rs1780888090
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg) rs1776588357
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro) rs1490039469
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.568A>G (p.Met190Val)
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser) rs2128562619
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.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.716A>T (p.Glu239Val)
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.758A>G (p.His253Arg) rs749937487
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.784G>A (p.Val262Met) rs1582913143
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
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.841C>T (p.Leu281Phe) rs367551823
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
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.911A>G (p.Tyr304Cys)
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys) rs772620616
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)

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