ClinVar Miner

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

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NC_000006.11:g.(?_146007238)_(146007452_?)del
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
NM_005670.4(EPM2A):c.314A>G (p.His105Arg) rs1554263366
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) rs202234583
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser) rs1480939817
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) rs61757376
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys) rs191406622
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) rs142658692
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala) rs1278542056
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156
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.719-2A>T rs772082648
NM_005670.4(EPM2A):c.719-4G>A rs145030227
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) rs200641543
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) rs958366800
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr) rs755742563
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro) rs768781694
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)

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